Bio 1001A Outcomes
Cycle 1 & 2
Principles underlying evolution by natural selection: variation, heritability, differential reproduction, change in genotype of the population
Variation- mutations – virons with a certain mutation that causes them to be resistance will survive longer than those without
Heritability- Resistance is passed on from parent to offspring
Differential Reproduction- Not all virons ill reproduce. The virons that are resistant to the drug/ treatment are more likely to reproduce.
Change in Genotype of Population- viral population will change overtime. Natural selection will occur due to environmental pressures and genotypes that favour the environment will persist.
evidence from the fossil record, historical biogeography, comparative morphology and molecular biology that support the idea of descent with modification from a common ancestor
Adaption by Natural Selection – the product of natural selection is evolutionary adaption. Eg. wing of a bird.
Fossil Record – this record provides evidence of ongoing change in biological lineages. Evolution of modern birds can be traced from a dinosaur ancestor through fossils.
Historical Biogeography –Geographical distribution relates to evolutionary history relating to Darwin’s theories. E.g. species on oceans are common to the on the nearest mainland. Species from one continent are closely resembled.
Comparative Morphology- Homologous Traits (characteristics that are the same in two species because they are inherited from their common ancestor). All four legged vertebrae come from a common ancestor. The specific structural differences like bones and joints do not interfere with these similarities.
characteristics of a scientific theory and the importance of falsifiability
Scientific Theory - “coherent set of testable hypotheses that attempt to explain facts about the natural world”
Attempt to prove a theory false is how a theory is defined as a fact.
Theories achieve status of facts after there are repeated and rigorous efforts to falsify them and all efforts have failed.
an assertion that is difficult to prove (unfalsifiable assertion) is not scientific (e.g. Bertrand Russel proposed that there is a small flying tea pot in space orbiting the earth but it’s too small that telescopes can’t detect it.) The burden of proof rests on the people making the assertions to proclaim that their assertion is true.
Evolution is a TRUE theory – fact
This is true because there is so much evidence it would be perverse to deny it.
changes in amount of DNA throughout the cell cycle
‘n’ represents one copy of all an organisms nuclear chromosomes.
Interphase G1 | 2n | 2C |
Interphase S | 2n | 4C |
Interphase G2 | 2n | 4C |
Prophase | 2n | 4C |
Metaphase | 2n | 4C |
Anaphase | 2n | 2C* |
Cytokinesis | 2n(each) | 2C |
Gamete | 1n | 1C |
Zygote(interphase) | 2n | 2C |
Zygote(after S phase) | 2n | 4C |
main features of each stage of mitosis with respect to cytoskeleton and chromatin
Phase | Cytoskeleton and Chromatin |
Prophase |
|
Prometaphase |
|
Metaphase |
|
Anaphase |
|
structure of a replication bubble
Replication Bubble – occurs when unwinding creates two Y’s joined together at their tops. Action on either side of the replication fork mirrors itself.
relationship between replicated DNA and metaphase chromosomes
In S phase, the DNA becomes replicated, so now there’s 2 copies in the cell. The metaphase chromosomes are these 2 copies of DNA that become condensed and joined at the centromeres. Each sister chromatid is identical (formed by DNA replication). This is how the cell maintains the inheritance of sameness.
Mechanism of Proofreading
depends on the ability of polymerases to back up and remove mispaired nucleotides from DNA stand. Only when the most recently added base is correct will the polymerase continue ahead allowing for stabilized hydrogen bonds
Steps:
Polymerization occurs in new chain 5’ to 3’.
Rarely DNA polymerase adds a mismatched nucleotide
DNA polymerase recognizes the mismatch base pair. The enzyme reverses, using its 3’ to 5’ exonuclease to remove the mismatched nucleotide from the strand
DNA polymerase resumes its polymerization extending the new chain 5’ to 3’.
In bacteria the error rate is 1 in a million nucleotides
Mechanism of Mismatch Repair
Recognizes the distortions through the enzyme catalyzing mismatch repair. This occurs after DNA polymerase proofreads.
Steps:
Repair enzymes moves along the helix scanning DNA for distortions in the newly synthesized nucleotide chains.
If the enzyme encounters distortion, they remove a portion of the new chain including the mismatched nucleotides.
The gap left by the removal is filled by DNA polymerase using the template strand
DNA ligase seals the nicks left to complete the repair.
This mechanism is also used to repair DNA damage done by chemicals and radiation like the UV in sunlight.
People with Xeroderma Pigmentosum, (faulty repair mechanism), develop skin cancer easily.
General Trends in Cost of DNA Sequencing
Cost have been decreasing as technology advances and becomes readily available
Relative Distribution of Various Components of Genome Sequence
55%: over half of your genome is dead, viruses, mobile elements, transposons junk
10%: introns are valuable but don’t code, they get transcribed but not translated
10%: is essential (e.g. telomeres) 2% of the genome codes
25%: unknown (likely junk)
proportion of human genome coding for protein
of the 10% of essential of DNA only 2% codes for proteins
difference between DNA damage and mutation
DNA Damage – physical abnormalities that can be recognized by enzymes
they can be correctly repaired by certain enzymes
e.g. pyrimidine dimers
If its nots a double stranded change its just DNA damage not a mutation
Mutation – change in BASE SEQUENCE of DNA
This change is replicated with the cell
May cause change in protein function and regulation if occurs in 2% of coding DNA
DNA Damage that does not kill the cell by blocking replication can cause replication errors which cause mutations.
different types of genomic variation among humans
SNP: single nucleotide polymorphisms
Mismatch, Excision and Proofreading fail to fix the nucleotide and since it is not repaired, SNP’s are created and replicated to create a new nucleotide sequence.
Biological Mutagens: can cause diseases (retro transpons, mobile elements)
Insertion Sequences
Non- Homologous End Joining (NHEJ) – joins ends of broken chromosomes and slap them together
CNV (copy number variations) - change in the number of copies of a chunk of DNA
Inversion: some parts of DNA are flipped or in opposite order
why African populations have more unique SNPs than other populations (ie. Asian or Caucasian).
African people have far more variation, one to the other, than other people on the earth.
This interpreted to mean that African populations (genomes) are the oldest, populations had far more time to diverge.
About 50000 years ago people migrated out of Africa into the middle east populating the earth.
difference between insertion sequences, transposons and retrotransposons
Insertion Sequences:
cut and paste
contains genes only for its own mobility
simplest type of transposable elements.
Transposase enzymes catalyze some of the recombination reactions for inserting or removing the movable element from the DNA.
Inverted Repeat: ends of the IS enables the transposase enzyme to identify the ends of TE.
Transposons:
Not jumping genes since always move by backbone recombination and never in the air.
Cut and paste
have an inverted sequence at each end enclosing a central region with one or more genes. These inverted regions however are insertion sequences which provide the transposase for movement of the element.
Retrotransposons:
move via copy and paste
mobile DNA transcribed into RNA, then RNA is reverse transcribed into DNA (using reverse transcriptase), new DNA is then inserted into genome.
why mobile elements are considered to be biological mutagens
Biological Mutagen: physical or chemical agent that changes the genetic material of organism, thus increasing the frequency of mutation
Mobile elements can damage genome of host cell in different ways which leads to disease.
Transposable elements (IS, Transposons) are biological mutagens because they increase genetic variation.
Mobile Elements in DNA for a long time are subject to mutation like the other DNA and can alter it into a non-mobile residual sequence in the DNA.
role of tautomeric shifts in mutagenesis
A-T, G-C are most stable, bases appear in these forms. Sometimes these bases can switch from their keto to enol tautomer form (Thymine can pair with guanine and cytosine can pair with adenine).
Spontaneous tautomeric shifts can cause incorrect base paring
This improper pairing is not a mismatch, it will not be protected by proofreading as it doesn’t distorts the helix.
Mutation occurs doe to inherit instability in structure of bases giving rise to mutations.
mechanism of substitution mutagenesis during DNA replication
type of mutation where one base pair is substituted for another base pair.
Point Mutation (Silent, Missense, Non Sense) where a single base pair is replaced and could affect protein genes code for.
mechanism of in/del mutagenesis during replication
Insertion/ Deletion
Caused by slippage during replication
Regions of repeated sequences are susceptible to in/del mutations
New strand loops since too long and has insertion
Template strand loops: deletion
Mutation is undirected but NOT RANDOM
There are regions of genomes that are “hot spots”
mechanism of chromosomal rearrangements resulting from double strand breaks
Cells can fix backbones, but it still can make mistakes
E.g deletion, duplication, insertion
Pieces may get inverted when putting them back together
role of UV, ionizing radiation and ROS in mutagenesis
Reactive Oxygen Species (ROS) is damaging as it breaks DNA backbones
Strong Radiation (e.g. x-rays)
Ionizing radiation cause ROS that damage DNA
UV: Photons have enough energy to destabilize electron cloud and will end up with covalent bonds linking one thymine’s to the next on the same DNA backbone
2 DNA backbones, 2 thymine’s end up bonded together
Thymine Dimers: they must be fixed
Thymine dimers repaired by excision repair and detecting dimers and cutting them out.
Cycle 4
the basic mechanism of DNA recombination in meiosis
Required:
Two DNA molecules that differ from one another
A mechanism for bringing the DNA molecule into close proximity
Collection of enzymes to cut, exchange and paste DNA back together.
Enzymes break the covalent bond in each of the four backbones
The free ends are exchanged and reattached to those of the other DNA molecule.
the stage of meiosis when recombination occurs
Recombination occurs only in prophase of meiosis 1
evolutionary advantages of gene duplication
Provides base material for further evolution (more raw material for evolution)
2 copies of gene: one can diverge to do a different job or one can be expressed in different conditions.
Zygote brings mom and dad’s DNA into the same cell
In fungi recombination occurs in the zygote but in nowhere else (plants or animals).
During prophase 1 of meiosis chromosome pair up and generate diversity
products of meiosis in animals vs. plants, fungi and algae
Animals:
Meiosis occurs forming gametes (egg or sperm) (1n)
For sperm each of the four cells produced are functional but only of the four eggs are.
Fertilization occurs to form a zygote (2n)
Mitosis then occurs duplicate cells.
Plants:
Fertilization produces the sporophytes (diploid 2n)
After sporophytes grow they undergo meiosis to produce haploid spore genetically different
Spores undergo mitosis and grow into haploid gametophytes
Some nuclei of gametophytes develop into eggs or sperm nuclei.
These eggs/ sperm from a specific gametophyte are genetically identical since they arise from mitosis
Fusion of haploid egg and sperm produce zygote to produce the zygotic sporophyte.
The gametophyte is most seen in plants. Female gametophyte remains in flowering part of plant while pollen when released fertilizes the egg of the same species creating a zygote sporophyte.
Fungi and Algae:
Diploid stage is limited to the zygote produced by fertilization of two haploid gametes (negative and positive haploids).
Diploid zygote undergoes meiosis to produce haploid phase immediately after.
Mitotic divisions occur only in haploid phase to produce spores
Spores germinate to produce haploid individuals which grow by mitosis.
Eventually positive and negative gametes are formed by differentiation of some of the cells (genetic information is still identical since all is mitosis).
main differences between meiosis and mitosis
Mitosis
sameness: same number of chromosomes, same DNA sequence
product contributes to the body that makes them
sister chromatids of each chromosome are attached to different spindles and move in opposite direction.
Produces 2 identical cells, same # of chromosomes.
Meiosis
halved chromosome number (from 2n to n) and recombined DNA sequence.
Occurs only in specialized tissues that produce gametes or spores
Sister chromatids of one chromosome are attached to the same spindle and move in same direction in anaphase 1
Only occurs in reproductive tissue
DNA replication does not proceed after Meiosis 2 is done
Resulting daughter cells are not genetically identical
characteristics of homologous chromosomes
They have the same genes arranged in the same order in the DNA of the chromosome.
Paternal Chromosome is from male parent
Maternal Chromosome is from female parent
Chromosomes have consistent shape & banding pattern
They carry the same genes but different alleles
Alleles have similar but distinct DNA sequences which encode varying RNA or proteins.
Timing of meiosis in vertebrate life cycle
When men sexually mature – being to produce gametes (cells in meiosis)
Engaging in sexual recombination
Men are always producing gametes
Females don’t engage in sexual recombination – meiosis occurs before they are born
Recombination occurred before birth – finished meiotic combination
Pregnant women are 3 generations of DNA sitting there that could suffer mutations.
reason why meiosis I is "reductional" and meiosis II is "equational"
Meiosis 1: chromosome # reduced in half- diploid to haploid
Meiosis 2 – # of chromosomes remains unchanged, similar to that of mitosis
changes in C and n during meiosis
Stage | C Value | N Value |
Prophase 1 | 4 | 2 |
Prometaphase 1 | 4 | 2 |
Metaphase 1 | 4 | 2 |
Anaphase 1 | 4 | 2 |
Telophase 1 and Interkenisis | 2 | 1 |
Prophase 2, Prometaphase 2, Metaphase 2 | 2 | 1 |
Anaphase 2 | 2 | 1 |
Telophase 2 | 1 | 1 |
how homologues pair in order for all non-sister chromatids to participate in recombination
Homologous chromosomes have same genes but different genes(alleles)
DNA sequences are similar enough to form meiotic pairing but different enough to create recombination’s
They pair on top of each other rather than side to side
Regions in which non sisters cross are called cross-overs or chiasmata
mechanism by which recombination creates new combinations of alleles
Recombo does not switch alleles of a given gene but rather all the DNA sequence stretching from the site of recombo to the ends of the participating chromatid is exchanged.
mechanism by which recombination creates copy number variation (CNV)
Unequal recombination when chromosomes are not paired up properly are CNV’s.
Can be caused by improper alignment or errors in crossing over causing duplications or deletions
Duplications can be good as one copy can diverge to evolve while other keeps original function. Gene duplication can increase genomic complexity.
mechanism of recombination during prophase
Occurs when chromosomes pair and crossover by cutting and pasting of backbones
Recombination requires cutting and pasting 4 DNA backbones
Mobile elements move by recombination, never floating around
role of cohesin and synaptonemal complex
As homologous chromosomes pair they are held tightly together by a protein framework called the synaptonemal complex.
This complex disassembles towards the end of prophase 1
Cohesion holds and regulates sister chromatids separation mitosis and meiosis
randomness of alignment of homologous pairs at metaphase I
All maternal chromosomes may line up to be pulled to one pole while the paternal chromosome to the other but it is more likely a mixture of paternal and maternal chromosomes to each pole.
The number of possibilities depends on the number of chromosome pairs in a species. It is 2number of chromosome pairs
This randomness is responsible for the independent assortment of alleles of two genes.
The possibility that two children of the same parents could receive the same combo of maternal and paternal chromosomes is (232)2
relationship between distance separating genes and the likelihood of recombination between them
The more distance between genes along a chromatid the more likely recombination is going to happen. Because a gene is closer together they are more likely to stay together during recombination (crossing over) see simutext section 2 pg. 11)
way in which meiosis can be thought of as a kind of DNA "repair". That is, how can you inherit mutations on both homologues of chromosome 6 but give a chromosome 6 with no mutations to your offspring?
Recombination provides variability that increases the chance of advantageous combinations of alleles in certain environments.
Recombination may be able to fix bad genes
Chromosomes formed by recombination can have more good genes than their originals
Although they have mutations the combination of segments from both chromosomes may be advantageous in a specific environment
Independent assortment could case all the preferred genes to go to one pole and mutations to another causing some gametes with no mutations.
overall, various mechanisms by which meiosis generates variation
Recombination of homologous chromosomes
Different combo of maternal and paternal chromosomes segregated to poles in anaphase 1
Different combo of recombinant sister chromatids segregated to the poles during A11.
Set of male and female gametes that unite in fertilization.
mechanisms giving rise to aneuploid products of meiosis
Aneuploidy: unbalanced
Non disjunction – failure to disjoin the homologues pairs at meiosis 1
Problems in M1 cannot be fixed in M2 as the cytoskeleton of M2 cannot compensate for the problems made.
Mis-division – chromatids fail to separate in meiosis 2
Cycle 5
characteristics of Mendel's work that set him apart as a genetic researcher
Gregor Mendel experiments with pea plants answered questions on how traits were inherited through offspring in 1860’s.
He was able to contradict the blending theory of inheritance which suggested traits blend evenly through mixing parents blood.
He studied characters (inheritable characteristics) and their variations (traits).
He did not know that the segregation of chromosomes to gametes influenced the inheritance patterns.
Unique because he studied characteristics in a statistical/ quantitative way.
components of Mendel's explanatory model
Mendel prevented self-fertilization (since his garden peas contained both sperm (pollen) and eggs in the same plant by cutting of the anthers. He used an anther from one plant and applied it to the stigma (where the eggs are). This is called cross pollinating.
The plants he used were true- breeding (when self-fertilized, they passed traits without change from one generation to the next.
Seeds were the result of the experiment which were scored for seed traits like smooth or wrinkled or for adult traits which include flower color.
Results in the F1 generation were the same traits as the P(parental) generations (purple flowers). In the F2 generation there was a 3:1 ratio of purple and white flowers.
First Theory: the adult plants carry a pair of factors that govern the inheritance of each character.
Allele – different versions of a gene that produce different traits of a character (two alleles of one gene that govern traits).
Second Theory: if an individual’s pair of genes consist of different alleles one allele is dominant over the other recessive one.
Dominant alleles code for functional enzymes and determine the genotype. The recessive allele codes for the non-functional enzyme. Dominant alleles don’t inhibit recessive ones.
Three results of experiment:
The genes that govern genetic characters are present in two copies in individuals.
If different alleles are present in an individual’s pair of genes, one allele is dominant over the other
The two alleles of a gene segregate and enter gametes singly.
Theory 3: Principle of segregation- as gametes are formed half of the gametes carry one allele and the other half carry the other allele. Zygote receives one allele from each parent gamete.
distribution of progeny, given parental genotypes in monohybrid, dihybrid and sex-linked crosses
The progeny from a mono hybrid cross:
¼ homozygous dominant, ½ heterozygous, ¼ homozygous recessive
For sex- linked traits, the trait is carried on the X chromosome so on both chromosomes of the female but only one for the male.
parental genotypes, given distribution of progeny in monohybrid dihybrid and sex-linked crosses
A monohybrid cross is a mating between two individuals with different alleles at one genetic locus of interest.
The characters being studied in a monohybrid cross are governed by two or multiple alleles on homologous chromosomes. Work backwards from above.
location of various alleles on homologues
Particular site on a chromosome at which a gene is located is called the locus of the gene
Alleles are located on same locus of gene on each homologues pair
segregation of various alleles during meiosis in monohybrid, dihybrid and sex-linked situations
Pair of alleles separate as gametes are formed in (M1)
½ of the gametes carry one allele and other half carry other allele
During fertilization the zygote receives one allele from male and one from the female.
Chromosome Theory of Inheritance: genes and alleles are carried on chromosomes (Walton Sutton)
number of different gametes produced, given parental genotype
Monohybrid Cross: 3:1 phenotypic ratio (Rr and Rr)
Dihybrid Cross: 9:3:3:1 phenotypic ratio (RrWw and RrWw)
arrangement of genes and alleles on homologous chromosomes in a dihybrid organism
Dihybrid: a zygote produced from a cross that involves 2 characters, heterozygous for 2 traits.
The genes for each character is located at different pairs of homologous pairs (one gene is found on chromosome 6 while another is found on chromosome 8 but still involved in the same cross.
Can also be located at different loci of the homologous chromosome.
Separation in meiosis and gamete formation is independent of separation of other pairs, as in the independent assortment of the alleles of different genes.
how independent assortment creates 4 different products of meiosis from a dihybrid parent
Independent Assortment: The alleles of the genes that govern the two characteristics segregate independently during meiosis.
Random alignment of homologous chromosomes pairs in meiosis ensures that R alleles for seed shape can be delivered independently to a gamete with either the Y or y allele.
application of the sum and product rule of probability
Product Rule
Defined as the probability that two or more events whom are independent of each other will occur. Individual probabilities are multiplied.
E.g., the sex of one child has no effect on the sex of the next child therefore the probability of having four girls in a row is ½x ½ x ½ x ½ = 1/16
E.g. probability of producing a PP zygote from two Pp parents is (½ x ½ = ¼)
Sum Rule
Applies when several different events all give the same outcome, there are six ways to get a sum of 7 when rolling two dice. (six ways of getting the same outcome).
The frequency of getting each combo is 1/6 x 1/6 = 1/36
The probabilities of rolling a total of 7 is the sum of the independent combos. 1/36 + 1/36 +1/36 +1/36 + 1/36 + 1/36 = 1/6
Probability of production of Pp offspring: Each of the ways to get Pp is ¼ + ¼ = ½
Test Cross – cross between an individual with homozygous recessive and heterozygous. This test is used to determine if an individual is dominant homozygous or heterozygous. If homozygous then all phenotypes will be of the dominant allele. If heterozygous it will be half.
pattern of offspring expected, given mechanism of epistasis
Epistasis: genes interact with one or more alleles of a gene at one locus inhibiting or masking the effects of one or more alleles of a gene at a different locus.
When one gene can mask the effect of another gene at a different location
A gene is epistatic to another if it eliminates or inhibits the activity of the gene.
Dihybrid crosses that involve epistatic interactions produce distributions that differ from 9:3:3:1
E.g labs with alleles BB or Bb have black fur and bb is brown fur.
The dominant allele E however permit pigment deposition
ee blocks off almost all pigment disposition therefor making labs yellow
thus E is epistatic to the B gene.
distinction between codominance and incomplete dominance
Incomplete Dominance: occurs when the effects of recessive alleles can be detected to some extent in heterozygous (blend).
E.g. Sickle cell disease is homozygous recessive but when heterozygous for this gene, have a condition known as sickle cell trait which is a milder form of the disease since the individual still produces normal polypeptides.
E.g. – red and white flower = pink flower
Codominance: when alleles have approximately equal effect in individuals making the two alleles equally detectable in heterozygous.
E.g. Blood Type, spotted cots
If phenotype exists because one allele can’t compensate for other: Incomplete dominance********
way in which inheritance of polygenic traits show that inheritance is not "blended"
Polygenic Inheritance: several to many different genes contribute to the same character e.g. height, skin color, body weight in humans, length in corn.
Also known as quantitative traits.
Graph of distribution of people in each class resembles a bell curve (highest in middle lowest on extremes)
Some children aren’t intermediate relative to their parents. We are not just a blend of our parents but rather quantitative traits contribute to phenotypes thereby causing variants in a specific trait.
Expression of a genetic phenotype can be influenced by the environment
Poor nutrition during infancy can limit growth
description of pleiotropic genes
Pleiotropy: single genes affecting more than one character of an organism
E.g. sickle cell disease (caused by a recessive allele of a single gene) affects hemoglobin structure, blood vessel blockage, which can damage tissues and organs in the body producing a wide-ranging of symptoms.
mechanism by which X inactivation accomplishes doseage compensation for X linked genes
Since males have one x chromosome and females have two, one of the x chromosomes in females is inactive.
Females although they have two copies for the genes on X, do not need twice as many products from these genes.
Barr Body: the inactive condensed x chromosome seen in the nucleus of female mammals. Inactivation is not incomplete
As a result of this equalizing method the activity of most genes carried on the X chromosome is essentially the same in cells of males and females.
Cycle 6
general pathway of eukaryotic membrane protein production.
Transcribed in nucleus – translated in cytoplasm – packed by ER, vesicles, golgi complex –packed in membrane bound vesicles – then taken to membrane
general physiology of skin/hair pigmentation.
Skin and Hair come from melanin
Made by specialized skin cells called melanocytes
There are two types of melanin:
pheomelanin (yellow to red)
Eumelanin (black)
Melanin is stored in melanosomes and each type has its own melanosome
Melanocytes transfer mature melanosomes to cells called keratinocytes which give skin and hair tis colour.
Red melanosomes: red or blonde hair
Black melanosomes: create black hair or dark skin
A mixture of black and red melanosomes creates brown hair and skin
characteristics of dominant alleles.
In heterozygotes, the allele that determines the phenotype is the dominant allele
Which allele makes the “always on protein”
Black melanin is dominant since it is always on unless suppressed by hormone
which allele in a heterozygote is dominant, given the biochemical mechanism of action of allele products.
Check offspring production.
Will give you biochemical mechanism and determine what allele is dominant
whether or not the dominance status of an allele affects its frequency over time in a population.
Dominance/ recessives does not influence selection.
Dominance does not cause selection towards it.
Being dominant or recessive affects phenotype but if equal chance of survival (no selection), being dominant or recessive has no influence over fait of allele.
E.g. blonde hair won’t die out since it does not make you more likely to survive
function of black, brown and red MC1R alleles as described in SimuText.
Melanocortin 1 receptor (MC1R) lies on membrane of melanocytes and is triggered by hormones
Depending on signal received or not, the MC1R receptor tells the melanocytes to produce eumelanin or pheomelanin.
Black Allele:
B allele
When MC1R is activated or on cyclic AMP levels in the cell are high and melanocyte produces eumelanosomes.
Even if ASP is present (R allele) eumelanosomes are still produced
Dominant over brown allele
Red Allele:
R allele
ASP released by nearby cells inactivates MC1R and cAMP levels fall
Even without ASP it is inactive
When cAMP levels are low enough the cell produces pheomelanosomes.
R allele is recessive to both W and B since they are at least somewhat activated, increasing cAMP and overriding the always of R version
Brown Allele:
W allele causes both types of melanin to be produced
Recessive to the b allele
explanation for spotted coat color in pigs as described in SimuText.
S is derived from the B allele which is always on
In most cells the S allele however produces pheomelanin only as it contains a mutation that destroys MC1R’s ability to function at all.
Back mutations can occur during mitosis that restore MC1R’s ability to function as a B allele during mitosis.
As a result, an SS cells can sometimes produce SS and SB daughter cells.
Since they compose of both, they are mosaics with red fur but black spots.
conditions under which allele frequencies change, or not, in a population over time
Difference between quantitative and qualitative variation
Quantitative Variation: individuals differ in small incremental ways (height, weight, number of hairs)
This data is displayed in bar graphs or a curve (width of curve represents variation)
Qualitative Variation: exist in two or more discrete states, and intermediates forms are often absent. Eg snow geese either have blue or white feathers, no pale blue.
Polymorphism: existence of discrete variants of a character. These traits are called polymorphic.
Human A, B, AB, O blood types is a Biochemical Polymorphism.
Sources of phenotypic variation, and which of these is/are heritable
Genetic Differences between Individuals
Genotypic and phenotypic variation is not perfectly correlated since different genotypes can have the same phenotype (dominant and homozygous).
Differences in the Environmental factors
Acidity of soil influences flower color
Interaction between Genetics and Environment: one field of wheat could produce more grain due to the availability of nutrients but could be also affected by genetic differences in two different fields.
Only genetically based variation is subject to evolutionary change.
Natural selection operates on the entirety of a phenotype not genotype as phenotype is what turns out to be successful or not.
Meaning of directional, stabilizing, disruptive selection
Directional Selection: when individuals at one end of the spectrum are most fit. The traits mean value is shifted left or right after selection.
E.g. predatory fish promote directional selection for guppies to larger bodies since smaller bodies are feed on more.
Very common in artificial selection since aimed at increasing or decreasing specific phenotypic traits.
Shifts a phenotypic trait away from the existing mean.
Stabilizing Selection: individuals expressing intermediate phenotypes have the highest fitness.
Reduces phenotypic variation in population
Most common mode of selection in familiar traits like newborns weight.
Disruptive Selection: when extreme phenotypes have increased phenotypes than intermediates.
The extreme phenotypes promote polymorphism since the extremes become more common.
Least common mode of selection.
Increases phenotypic variation.
How each of the above modes of selection affects phenotypic variation in a population
See above
Meanings of gene pool, genotype frequencies, allele frequencies, genetic equilibrium
Gene Pool: sum of all alleles at all gene loci in all individuals in a population
Genotypic Frequencies: percentages of individuals possessing each genotype.
Allele Frequencies: relative abundance of different alleles.
Genetic Equilibrium: the point at which neither allele frequencies change in succeeding generations.
How to calculate allele frequencies, given observed genotype frequencies
p and q represent the allele frequencies
How to calculate genotype frequencies expected under genetic equilibrium
Genetic Equilibrium: point at which neither allele frequencies nor genotype frequencies change in succeeding generations.
P2 and q2 are the expected genotypic frequencies for homozygous genotypes and 2pq is the genotypic frequency of the homozygous genotype.
These frequencies stay the same from population to population that are under genetic equilibrium.
(p + q) x (p + q) = p2 + 2pq + q2
Identify populations that are, or are not, at genetic equilibrium, given observed genotype frequencies
The Hardy-Weinberg principle is a null that serves as a reference point for evaluating circumstances where evolution may occur.
If genotypic frequencies of the next offspring do not match the predictions of genetic equilibrium than evolution may be occurring.
Determining which condition is not met is the first step in understanding why gene pool is changing.
Conditions that must be met for genetic equilibrium to occur
No mutations are occurring
The population is closed to migration from another population
Population is infinite in size (no genetic drift)
All genotypes in the population survive and reproduce well (no selection)
Individuals mate randomly with respect to traits being considered
Allele frequencies don’t change if they meet these conditions. Evolution occurs if they do change.
How the dominance status of alleles affects their frequency, in the absence of selection
Even if dominant over another in the absence of selection, allele frequency does not change
Dominance and excessiveness of alleles do not cause evolution. Every individual and phenotype has an equal likelihood of surviving and reproducing.
As long as there is no selection, the allele frequencies in population remain relatively the same.
How the dominance status of alleles affects the response to selection
Selection against dominant alleles would cause the allele to disappear
If there is a harmful dominant allele, population can remove that allele
Selection removes genetic variation from the population
Selection against recessive allele will not cause the allele to disappear.
Will just decrease in frequency
Heterozygous fitness is fine so recessive allele can hide from selection
There can be selection that does not result in evolution.
Difference between positive and negative frequency – dependent selection, and how each affects genetic variation
Negative Frequency – Dependent Selection:
Rare phenotypes have advantage (increases in frequency)
Common has disadvantage (decrease in frequency)
Maintains genetic variation in population
Increases frequency of rare alleles and decreases frequency, of common, until common become rare and it switches
Positive Frequency – Dependent Selection:
Rare alleles phenotypes have a disadvantage (decrease in frequency)
Common have an advantage (increase in frequency)
Eliminates genetic variation in population
Removes rare phenotype completely
Effect of heterozygote advantage on genetic variation
- Heterozygote have higher fitness (WRR= WSS < WRS)
Sometimes heterozygotes can have different phenotypes from either homozygote (incomplete dominance/ codominance).
With pigs s allele is a lot of spots, no s is no spots but if heterozygote its an intermediate of a little and lot of pigs.
Both alleles get maintained. Genetic variation is maintained as both allele frequencies reach 0.5.
More common alleles will decrease and less common will increase reaching 50/50.
Evolution is not occurring when population reaches genetic equilibrium of 50/50 even though there is selection.
Similarities between negative frequency dependent selection and heterozygous advantage
This will cause the most common phenotype to decrease in frequency as the allele for the rare alleles are most common and the more rare one to increase
Will cause 50/50 split (relatively close)
Effect of heterozygote disadvantage on genetic variation
Advantage maintains diversity and allows alleles to reach a genetic equilibrium
WRR = WSS > WRS
Whichever allele has a higher frequency will increase in and reach one and lower frequency to start will reach 0 in heterozygote disadvantage.
Has opposite effect as heterozygous advantage: has to do with the fact that the frequency of an allele whether common or rare influences how likely the allele will be found in homo or heterozygotes.
Rare alleles are mostly found in heterozygotes so they decrease in frequency thereby approaching zero in HD.
Similarities between positive frequency- dependent selection and heterozygous disadvantage
In both cases the rare phenotype frequency decreases until it hits zero
The most common phenotype will have an advantage
Whether selection always results in evolution
Evolution only occurs when allele frequencies change. Once at equilibrium due to selection, the frequencies do not change.
Therefore, it is possible to have selection without evolution. Even though it is not in Hardy-Weinberg it is not evolving.
Processes that reduce, remove, or maintain heritable variation in populations
Reduces Variation:
Genetic Drift: (bottleneck, founders effect)
Non-Random Mating: inbreeding decreases variation as homozygous traits are common.
Increases Variation:
Gene Flow: introduces new genes to population
Mutations: introduces new genetic variation, crossing over in meiosis
Effect of non-random mating (e.g., inbreeding) on allele frequencies and on genotype frequencies
Inbreeding: special form of nonrandom mating where genetically related individuals mate.
Self-fertilization occurs in plants (pollen of plant fertilizes egg of the same plant) and occurs in some animals
Organism in small, relatively closed populations carry the same alleles
Inbreeding increases frequency of homozygous genotypes and decreases heterozygous.
Amish as discussed also are affected by inbreeding increasing expression of disease.
Does not generally change allele frequencies but prevents genetic equilibrium.
Being out of HWE does not mean evolution is occurring. Even though it violates an assumption that allele frequencies stay the same.
Assertive mating: mating with people that look like you
There is no selection (same number of offspring) and the only violation of HW is nonrandom mating. Allele frequencies are the same but no longer in HW equilibrium.
Disassortive Mating: mating with different phenotypic
Effects of genetic drift and gene flow on variation within a population
Gene Flow (Immigrants)
Gene flow is the transfer of genes from one population to another through the movement of individuals or gametes.
Immigrants who reproduce may introduce novel alleles shifting its allele and genotype frequencies. It is not just movement alone that fosters gene flow.
Dispersal Agents: responsible for gene flow in plant populations. E.g. pollen carrying wind or seed carrying animals.
Contribution to a gene pool by immigrants must occur to foster gene flow and variation.
Gene flow is dependent on the genetic variation between populations and the rate of gene flow between them.
Genetic Drift (By Chance)
Chance events that cause allele frequencies in a population to change unpredictably
Has more of an effect on smaller populations violating the Hardy Weinberg assumption of an infinitely large population.
Easier for allele frequencies to be drastically changed.
Generally, leads to loss of alleles and reduced genetic variability
Bottleneck Effect
When a stressful factor like disease, starvation or drought reduced a population greatly and eliminates alleles reducing genetic variation.
Analogy: when environmental event occurs, only a certain number of alleles will pass through a bottle neck and increases likelihood of rare alleles being eliminated.
Founders Effect
A population that was established by a few individuals has only a fraction of genetic diversity.
Some alleles may be missing or rare alleles back home might be high in frequency
13% of Amish of Pennsylvania carry a rare recessive allele for dwarfism, shortened limbs and extra fingers. All individuals with these syndromes are descended from a couple who helped founded the community in mid 1700’s.
Relative fitness for each genotype, given a set of absolute fitnesses
Selection is when different genotypes have different finesses
Absolute Fitness(W): average number of surviving offspring for each genotype.
Eg WAA=20 Waa= 15 Waa= 12 Selection is happening
Relative fitness(w): divide absolute fitness by absolute fitness of most successful genotype(w = W/Wmax).
Therefore, most successful will have a relative fitness of 1 and all others will have 1 or less.
**What type of selection is operating, given a set of relative fitnesses
How genetic drift can affect allele frequencies even in the absence of bottlenecks or founder events
Random changes in frequencies due to sampling errors. Random changes in allele frequencies are always happening.
Reduces genetic variation over a long period of time… happens by chance.
It is not a self-correcting process the fact that an allele decreases in one generation does mean it will increase in the next. It is random regardless of what happens in a previous generation.
*Which assumptions of Hardy-Weinberg equilibrium have likely been violated, given an observed set of genotype or phenotype frequencies
No mutations are occurring
The population is closed to migration from another population
Population is infinite in size (no genetic drift)
All genotypes in the population survive and reproduce well (no selection)
Individuals mate randomly with respect to traits being considered
If observed genotype does not match expected, then HWE is violated and external factors caused discrepancies such as selection pressures or small population.
Cycle 7
Examples of genetic exchange/ recombination without reproduction, and of reproduction without genetic exchange/ recombination
Reproduction without sex: binary fission
Sex without reproduction: bacteria exchanging genetic info
How recombination contributes to population genetic variation
Generates new multilocus combinations of alleles
Offspring are genetically different from parents
Meanings of monoecious, dioecious
Dioecious: separate sexes mating
Monoecious: individual is male and female (hermaphroditic)
Difference between sequential and simultaneous monoecy
Simultaneous: can be both sexes at once
Sequential: can change from male to female or female to male
Examples and predictions of size-advantage model of sex change
M to F: Protandry - F to M: Protogyny
Examples and predictions of adaptive sex ratio manipulation
Which offspring sex has more to gain from being in good condition?
Which offspring sex has less to lose from being in poor condition?
Ex: male blue birds with bright feathers will mate more and produce brighter males, male blue birds with dull feathers won’t mate a lot and produce more daughters
Reason why most populations have 1:1 sex ratios
When ratio is 1:1, there is no sexual advantage to being male or female
When lots of males, there are not as many females to mate with and male advantage goes down, vice versa
Prevalence of sexual vs asexual reproduction in animals, plants and other forms of life
First living things reproduced asexually
Most organisms reproduce asexually
Costs of reproducing sexually as opposed to asexually
Asexual populations grow 2x as fast since they don’t rely on males to fertilize females
Benefits of reproducing sexually as opposed to asexually
Increases rate at which disadvantageous mutations can be discarded
Increases rate at which advantageous mutations can be brought together
Decreases likelihood of extinction
Recombination speeds up evolution
How environmental stability influences whether sexual or asexual reproduction is
favoured
Sexual reproduction is favoured when there is an immediate advantage that increases fitness of individuals due to their diversity
Lottery principle and Red Queen principle as environmental (short-term) benefits of sex
Sexual reproduction is favoured if environment is likely to change
Lottery Principle: buying many copies of the same ticket (asexual) VS buying many different tickets (sexual)
Red Queen Principle: “it takes all the running you can do just to stay in the same place” 🡪 the world around us is constantly evolving rapidly and we must evolve to keep up
How sexual reproduction places different selective forces on males vs. females
An attractive trait might not increase survivability
Males have many traits that might not benefit them
Males must compete for access to females
Distinction between intrasexual selection and intersexual selection
Intrasexual Selection: direct competition between males for access to females
Intersexual Selection: traits that females prefer in one male over another
Why males usually compete for access to females (rather than vice versa), and why in some species this pattern is reversed
It’s easier for females because they invest more in reproduction whereas males have to be given the right to be the father
It’s a lot easier for females to find willing partners
Males can always increase their mating success
Which sex has higher potential fitness
Males, since they can produce many offspring
Which sex has higher average fitness
They have the same
Relationship between sexual selection and parental investment
Females invest more (usually), thus females are choosy and males compete
If parental investment is equal between both sexes (ex: humans, penguins), both sexes are choosy
Advantages and disadvantages of living in a group
Advantages: helps capture prey, improves defense,
Disadvantages: increased competition for food, dominant individuals get priority
Meaning of dominance hierarchy, kin selection, altruism, reciprocal altruism, eusocial, haplodiploidy
Dominance Hierarchy: social system in which behavior of each individual is constrained by that individual’s status in a highly structured social ranking
Kin Selection: allowing close relatives to produce proportionately more surviving copies of altruist’s genes than the altruists themselves could
Altruism: individuals sacrifice their own reproductive success to help others
Reciprocal Altruism: individuals help nonrelatives if they are likely to return the favour in the future
Eusocial: a form of social organization in which numerous related individuals live and work together in a colony for the reproductive benefit of a single queen and her mate
Haplodiploidy: sex determination in insects in which females are diploid and males are haploid
Calculate degree of relatedness between two individuals, given the type of relationship (parent-offspring, cousins, etc)
Likelihood 2 siblings will receive same allele from mother at the same time is (0.5)(0.5) = 0.25
Each link drawn in family tree represents 0.5
Identify why haplodiploidy can favour high levels of cooperation in social insects
They are all related, therefore they wish to care for their siblings because they are all 75% related
One of their siblings may become the future queen
Whether a particular social behaviour represents cooperation, competition, spite or altruism
Why "altruistic" and "spiteful" behaviours are both difficult to reconcile with natural selection
Spiteful individuals have low fitness
How kin selection theory explains the persistence of helpful behavior
If benefit to the actor’s indirect fitness outweighs the cost to the actor’s direct fitness, behavior is favored by kin selection
Helpful behavior is favoured if rb > c (b = benefit, r = degree of relatedness, c = cost to actor’s direct fitness)
Situations in which kin selection does, or does not, favour helping non-descendant relatives
Decreases individual fitness but increases overall fitness of population
However, anything that reduces an individual’s fitness is vulnerable to being selected against
Meaning of direct fitness, indirect fitness, inclusive fitness
Direct Fitness: producing your own descendant offspring
Indirect Fitness: offspring produced with the help of the actor (increases the # of related alleles in the population)
Why interests of parents may conflict with interests of their offspring
Helping create more offspring for your parents can have a better benefit than producing your own offspring
“Do I help my parents or do I help me?”
Meaning of cultural intelligence, ultimatum game, rational maximizer
Cultural Intelligence: the capability to relate and work effectively across cultures
Ultimatum Game: proposer is offered money and can decide whether or not to share it. If responder rejects offer, neither of them get anything. Economic model predicts the proposer will offer the responder the minimum reward.
Rational Maximizer: will accept an offer regardless of how low. Even 20% of the original is better than nothing.
Similarities and differences between humans and closely related species (eg chimpanzees) in cognitive ability, "cultural intelligence", response to the "ultimatum game", and the value of fairness
Chimps are rational maximizers, whereas humans value fairness.
Relative risk of child abuse in families in which not all the adults are genetically related to all of the children
Chance that a young child would be subject to criminal abuse was 40x higher when children lived with one stepparent and one genetic parent.
Might be more difficult for people to invest in children that share no genetic info with them.
How asymmetries in relatedness can generate conflict between relatives
Asymmetry in relatedness 🡪 disagree over when helpful behavior is appropriate
If helping your brother benefits him (b) but costs (c) you, it depends on how big the benefit is
Your brother is half as valuable to you as you are to yourself, therefore to help your brother b > 2c
To your mom, you and your brother are equally valuable so your mom wants you to help your brother as long as b > c
To your brother, he is twice as valuable as you so your brother asks you to help whenever b >
Conditions that favour or disfavour cooperation between non-relatives
Mutual cooperation gives a better outcome is better than mutual betrayal
Mutual betrayal is the rational outcome
Most recent common ancestor (MRCA) for a given group(s), given a phylogenetic tree.
Homologies: similarities due to similar ancestors
Common ancestor for all living things is called LUCA (Last Universal Common Ancestor)
Only one LUCA, many MRCAs, one for each grouping
Why the idea that “humans are descended from chimps” is inaccurate.
Chimps and humans have a MRCA that is not exactly like chimps or humans
Why some traditional groupings of organisms (“reptiles”, “fish”) do not reflect evolutionary relationships
There are things we call monkeys that are more closely related to humans than of other monkeys which is alarming. (Old world monkey vs New world monkey)
Names we give organism ought to reflect their evolutionary relationships
For reptiles it is not a sensible name to give a group of organism
Evolutionary relationships between groups of reptiles are more closely related to birds than with turtles. Although turtles are reptiles, some reptiles are more closely related to birds than turtles.
Fish does not reflect evolutionary relationships: they have multiple rendezvous points,
Lung fish are closer related to us (humans) or birds than they are to other fish.
Term prokaryote is not a good term to describe evolutionary relationships as archaea are more closely related to eukarya than bacteria.
How the relative position of fossils in sedimentary rock strata (higher vs lower) reveals their relative age
Lower = older
Higher = newer
Ways in which fossils can form
Dissolved minerals can enter the spaces within bones and solidify (fossil skeletons)
Can be preserved in amber (tree resin) to show fine details
Moulds or impressions
Footprints on mud
Reasons why the fossil record is incomplete
Very few organisms fossilize completely
Some organisms are more likely to fossilize than others
Natural processes destroy many fossils
Importance of animal skeletons to the fossil record
Hard tissues lend themselves to mineral fossilization
Soft tissues are usually fossilized as moulds
Approximate age of the first living things, the first eukaryotes, and the first multicellular eukaryotes, based on fossil evidence
First living thing: 3.5 billion years ago
First eukaryote: 2 billion years ago
First multicellular eukaryote: 1.2 billion years ago
What types of traits are useful in determining evolutionary relationships
Characters that are independent markers of underlying genetic similarity and differentiation
Traits in which phenotypic variation reflects genetic differences, while trying to exclude differences caused by environmental conditions
Ex: tropical lizards can climb trees with sticky pads under their toes. They use the # of pads on the 4th toe of the left hind foot. They wouldn’t consider the right foot’s 4th toe as a separate character.
They don’t care about fine details, its more about the bigger picture
Meanings of mosaic evolution, ancestral character, derived character
Mosaic Evolution: some characters evolve slowly, while some evolve rapidly. Every species shows a mixture of ancestral and derived characters
Ancestral Characters: old forms of traits present in distant common ancestors
Derived Characters: new forms of traits
Whether ancestral or derived characters are more useful in determining evolutionary relationships
Derived characters are more useful because they provide the most useful knowledge about evolutionary relationships. Unless derived characters are lost or replaced, they can serve as markers for entire evolutionary lineages.
Ways in which cladistic systematics differs from traditional evolutionary systematics
Cladistics ignores morphological divergence, producing phylogenetic hypotheses and classifications that reflect only the branching pattern of evolution
Species that share derived characters are put in one group
Recognize monophyletic and non-monophyletic groupings (taxa), given a phylogenetic tree
Difference between homologous and homoplasious traits
Homologous: same shape but different function
Homoplasious: characteristics shared by a set of species, but not present in their common ancestor. Ex: flattened tails of beavers and platypuses are homoplasious
Relatively close and relatively distant relatives, given a phylogenetic tree
Look at how far apart the branches are from each other
Look for how far the MRCA is
Whether or not two phylogenetic trees convey the same information
Phylogenies can be moved around in orientation and still mean the same thing
Branching pattern MUST stay the same, but nodes can be rotated
Monophyletic and non-monophyletic groupings, given a phylogenetic tree
Monophyletic groups must include ALL of the descendants of the group’s MRCA (clades)
Non-monophyletic groups don’t show all of the descendants of the MRCA
Meaning of synapomorphy, symplesiomorphy, autapomorphy; and know which of these is considered informative in cladistic analysis
Synapomorphy: shared, derived traits (ex: birds and turtles share a trait, but lizards do not) USEFUL!!
Autapomorphy: unique to a single taxon, derived trait (ex: birds have feathers, but lizards and turtles don’t) NOT helpful for cladistics analysis
Symplesiomorphy: shared by 2 or more taxa, ancestral trait (ex: birds turtles and lizards all have the same trait from their MRCA) NOT helpful
Traits that are probably derived vs probably ancestral, given a phylogenetic tree and a suitable outgroup
Probably Ancestral:
present in the outgroup AND the ingroup
present in outgroup and SOME of ingroup
Probably Derived:
absent in outgroup, present in SOME of the ingroup
Unknown:
present in outgroup, but NONE of the ingroup
absent in outgroup, present in ALL of ingroup
Distinction between parallelism and convergence, and how both of these differ from homologous similarities
Both used to describe the tendency of organisms living under the same conditions to develop similar bodies
Convergent Evolution: refers to distant phylogenically related organisms
Parallel Evolution: closely related organisms
Whether carnivorous plants have likely evolved once or multiple times, and thus whether this trait is homologous or homoplasious
They likely evolved many times
Thus they are homoplasious
How the principle of parsimony informs outgroup analysis and helps identify the most likely phylogeny
Whichever tree requires the fewest evolutionary changes (gains/losses), is probably correct
Example:
Ingroup:
Chicken - No milk, No fur, Wings, Beak
Bat - Milk, Fur, Wings, No beak
Chipmunk – Milk, Fur, No wings, No beak
Outgroup (use something distantly related but not too distant):
Shark – No milk, No fur, No wings, No beak
Traits that are, and are not, synapomorphies (given a suitable outgroup and a distribution of traits)
Is “having a beak” a synapomorphy?
No It’s not shared, only one species has the beak
Which phylogeny is more parsimonious, given a suitable outgroup and a distribution of traits
Distinction between homology and homoplasy
Homology: similarity that reflects recent common ancestry
Not all similarities are homologies
Homoplasy: misleading similarity or dissimilarity (convergence and divergence)
Ex: placement of eyes in crocodiles and hippopotamuses, placed at the top because they need to see above water, not because they are closely related (convergence)
Ex: Darwin’s finches are very related but have very different beaks (divergence)
Homoplasious traits have a superficial similarity (shape, colour) but deep structure are very different 🡪 ex: bats and flies both have wings, but made up of very different structures
Most likely phylogenetic tree of a group of organisms, given a suitable outgroup and a matrix of traits
Think about which trait the common ancestor probably had (if outgroup and SOME of ingroup has trait)
Look for autapomorphies (only ONE of ingroup has the trait)
Which traits are synapomorphies?
Criteria used by the morphological, biological and phylogenetic species concepts to define species
Species: a population of organisms capable of interbreeding and producing fertile offspring
Morphological Species Concept:
Idea that all individuals of a species share measurable traits that distinguish them from individuals of other species
Applications – Identifying species of fossilized organisms
Weakness – Consider the variation in shells of snails. How can a variety of shells represent only one species of snail? Morphological species definitions tell very little about the evolutionary processes that produce new species
Biological Species Concept:
Idea that all individuals of a species can interbreed and produce fertile offspring
If members of 2 populations can interbreed and produce fertile offspring, they belong to the same species
Genetic Cohesiveness – Populations of the same species experience gene flow, mixing their genetic material. Thus, a species is like one large gene pool
Genetic Distinctness – Populations of different species are reproductively isolated; thus they cannot exchange genetic info. The evolution of reproductive isolation between populations.
Weakness – Does not apply to organisms that reproduce asexually (bacteria, protists, fungi, plants)
Phylogenetic Species Concept:
A concept where a species is the smallest population that can be united by shared derived characters.
They construct a tree of life for organisms of interest, tiniest twigs are species.
Advantage – Can be used on any group of organisms
Weakness – Detailed evolutionary histories have not been described for many species so biologists cannot apply the phylogenetic species concept to all forms of life.
Distinguish between pre-zygotic and post-zygotic isolating mechanisms and recognize examples of each
Reproductive Isolating Mechanism: Any biological characteristic that prevents gene pools of 2 species from mixing.
Pre-Zygotic Isolating Mechanisms
Exerts their effects before production of a zygote
5 Types: ecological, temporal, behavioural, mechanical, and gametic
Ecological – species living in the same geographical region experience isolation if they live in different habitats. (ex: lions live in open grasslands and tigers live in dense forests, the 2 species do not encounter eachother)
Temporal – species living in the same habitat, if they mate at different times of the day/year. (ex: different fruit flies mate in the morning and some at night, different flowers release pollen in different months)
Behavioural – when signals used by one species are not recognized by another. (ex: a specific female bird song is not recognizable to other species of birds)
Mechanical – differences in the structure of reproductive organs or other body parts. (ex: plants have certain structures that allow only certain pollinators)
Gametic – an incompatibility between the sperm of one species and the eggs of another. (ex: surface proteins on gametes of each species recognize eachother and different species won’t match)
Post-Zygotic Mechanisms
Exerts their effects after production of a zygote (when pre-zygotic mechanisms between 2 closely related species are ineffective, they will be isolated if the hybrids have lower fitness)
3 Types: hybrid inviability, hybrid sterility, hybrid breakdown
Hybrid Inviability – hybrid organisms frequently die as embryos or at an early age because the developmental instructions from each parent do not interact properly. (ex: domestic sheep and goats can mate but the embryos always die before coming to term)
Hybrid Sterility – when the hybrids do survive, but cannot produce functional gametes. These hybrids have 0 fitness since they produce no offspring. (ex: Mules, the product of a female horse (2n = 64) and a male donkey (2n = 62) are always sterile)
Hybrid Breakdown – hybrids are capable of reproducing but their offspring either have reduced fertility or reduced viability. (ex: crosses between fruit fly species can produce functional hybrids, but offspring experience a high rate of chromosomal abnormalities)
Whether coming into secondary contact is required for speciation to occur
Secondary contact is not necessary
All that needs to happen is to separate a single population and have it diverge due to selection
Ways in which secondary contact can affect speciation
Depends on how long the populations have had to diverge
Populations may resume interbreeding if secondary contact happens soon after isolation
Populations might have become partly or completely reproductively isolated 🡪 secondary contact has no effect
Whether prezygotic or postzygotic isolating mechanisms tend to be more costly
Postzygotic isolating mechanisms waste a lot of reproductive effort
You are investing lots of time into an offspring that ends up dying or reaches a reproductive dead end
Mutualistic, competitive and antagonistic relationships between species, given 'real world' examples
Mutualistic: both species benefit (ex: ants live on a tree, protecting it from predators but using it as a source of food and shelter)
Competitive: both species may experience a cost (ex: lions and cheetahs fighting for food, species all sharing at the same water resource)
Antagonistic: one may use the other as a resource (ex: a caterpillar eats a plant, hosts and parasite)
Factors that advantage one side or the other in an evolutionary arms race
Keeps escalating until costs of continuing to escalate outweigh the benefits
Follows life-dinner principle
Meaning of 'life-dinner principle'
What’s on the line if they don’t win the arms race?
There’s stronger selection pressure on the prey
If the prey loses, it dies, but if the predator loses, it simply has to find another meal
Difference between prudent-parasite hypothesis and trade-off hypothesis, in terms of the evolution of virulence
Prudent-Parasite Hypothesis: virulence (strength of damage the parasite causes) decreases over evolutionary time
Trade-Off Hypothesis: parasites balance costs/benefits of virulence
Factors that influence the optimal virulence of a given host/parasite relationship
Transmission mode, host ecology
Costs and benefits of being highly virulent (from the point of view of the parasite)
Benefits: increases competition between the host, helps transmit it to new host individual
Costs: kills the host quickly, so lifespan is short
Why improving equipment for survival does not always translate into 'winning' an evolutionary arms race
If a predator adapts overtime to run faster, their prey also adapts to run faster, thus, there is no higher success
Competing theories about where modern humans (Homo sapiens) evolved, and which is best supported by available evidence
African Emergence Hypothesis:
Early hominin descendants left Africa and established populations in the middle east, Asia, and Europe. Later, Homo sapiens arose in Africa and also migrated.
Homo sapiens drove hominins to extinction
Genetic data supports this hypothesis
It was later confirmed from work on the Y chromosomes that people from all over the world were all descendants of a single migration out of Africa
Multiregional Hypothesis:
Populations of H. erectus and archaic humans spread through Europe and Asia and modern humans evolved from their descendants.
How different species concepts resolve (or do not resolve) the question of whether Homo sapiens, neandertals and Denisovans were all members of the same species
Vital components of our immunes system were acquired through the HLA-B*73 allele inherited from Denisovans in west Asia 🡪 some HLA haplotypes entered modern European and Oceanian populations from both neandertals and Denisovans
Genomic analysis shows that ancestors of modern humans interbred with both neandertals and Denisovans 🡪 therefore all one species under biological species concept
Morphological evidence from fossils is incomplete thus the phylogenetic species concept cannot be used
Arguments for and against the idea that human are no longer evolving
For:
Humans now are very similar to humans hundreds of years ago
Against:
Genetic Drift is occurring
Population size is continually growing (increasing helpful mutations)
Evidence for recent evolution in humans
Selective Sweep: when a favourable new mutation increases in frequency, adjacent stretches of DNA come along for the ride (hitch-hiking)
Recently selected alleles have little variation in surrounding
Eventually, recombination introduces variation around the favourable allele
Detecting selective sweeps allows you to estimate the age of the selection event by analyzing the sequence variation around polymorphisms
Adaptations have been found for new food sources, and higher altitudes
Costs of large brains
Brain is only 2% of body weight but takes up 20% of your energy
Logistics of childbirth (large head is hard for females to give birth)
Possible advantages of large brains as proposed by the "utility hypothesis" vs. the "mating mind hypothesis"
Utility Hypothesis: language, tool use, and planning are needed in order for survival
Mating Mind Hypothesis: art, wordplay, humour, and music are needed in order for mating success.
Cycle 1 & 2
Principles underlying evolution by natural selection: variation, heritability, differential reproduction, change in genotype of the population
Variation- mutations – virons with a certain mutation that causes them to be resistance will survive longer than those without
Heritability- Resistance is passed on from parent to offspring
Differential Reproduction- Not all virons ill reproduce. The virons that are resistant to the drug/ treatment are more likely to reproduce.
Change in Genotype of Population- viral population will change overtime. Natural selection will occur due to environmental pressures and genotypes that favour the environment will persist.
evidence from the fossil record, historical biogeography, comparative morphology and molecular biology that support the idea of descent with modification from a common ancestor
Adaption by Natural Selection – the product of natural selection is evolutionary adaption. Eg. wing of a bird.
Fossil Record – this record provides evidence of ongoing change in biological lineages. Evolution of modern birds can be traced from a dinosaur ancestor through fossils.
Historical Biogeography –Geographical distribution relates to evolutionary history relating to Darwin’s theories. E.g. species on oceans are common to the on the nearest mainland. Species from one continent are closely resembled.
Comparative Morphology- Homologous Traits (characteristics that are the same in two species because they are inherited from their common ancestor). All four legged vertebrae come from a common ancestor. The specific structural differences like bones and joints do not interfere with these similarities.
characteristics of a scientific theory and the importance of falsifiability
Scientific Theory - “coherent set of testable hypotheses that attempt to explain facts about the natural world”
Attempt to prove a theory false is how a theory is defined as a fact.
Theories achieve status of facts after there are repeated and rigorous efforts to falsify them and all efforts have failed.
an assertion that is difficult to prove (unfalsifiable assertion) is not scientific (e.g. Bertrand Russel proposed that there is a small flying tea pot in space orbiting the earth but it’s too small that telescopes can’t detect it.) The burden of proof rests on the people making the assertions to proclaim that their assertion is true.
Evolution is a TRUE theory – fact
This is true because there is so much evidence it would be perverse to deny it.
changes in amount of DNA throughout the cell cycle
‘n’ represents one copy of all an organisms nuclear chromosomes.
Interphase G1 | 2n | 2C |
Interphase S | 2n | 4C |
Interphase G2 | 2n | 4C |
Prophase | 2n | 4C |
Metaphase | 2n | 4C |
Anaphase | 2n | 2C* |
Cytokinesis | 2n(each) | 2C |
Gamete | 1n | 1C |
Zygote(interphase) | 2n | 2C |
Zygote(after S phase) | 2n | 4C |
main features of each stage of mitosis with respect to cytoskeleton and chromatin
Phase | Cytoskeleton and Chromatin |
Prophase |
|
Prometaphase |
|
Metaphase |
|
Anaphase |
|
structure of a replication bubble
Replication Bubble – occurs when unwinding creates two Y’s joined together at their tops. Action on either side of the replication fork mirrors itself.
relationship between replicated DNA and metaphase chromosomes
In S phase, the DNA becomes replicated, so now there’s 2 copies in the cell. The metaphase chromosomes are these 2 copies of DNA that become condensed and joined at the centromeres. Each sister chromatid is identical (formed by DNA replication). This is how the cell maintains the inheritance of sameness.
Mechanism of Proofreading
depends on the ability of polymerases to back up and remove mispaired nucleotides from DNA stand. Only when the most recently added base is correct will the polymerase continue ahead allowing for stabilized hydrogen bonds
Steps:
Polymerization occurs in new chain 5’ to 3’.
Rarely DNA polymerase adds a mismatched nucleotide
DNA polymerase recognizes the mismatch base pair. The enzyme reverses, using its 3’ to 5’ exonuclease to remove the mismatched nucleotide from the strand
DNA polymerase resumes its polymerization extending the new chain 5’ to 3’.
In bacteria the error rate is 1 in a million nucleotides
Mechanism of Mismatch Repair
Recognizes the distortions through the enzyme catalyzing mismatch repair. This occurs after DNA polymerase proofreads.
Steps:
Repair enzymes moves along the helix scanning DNA for distortions in the newly synthesized nucleotide chains.
If the enzyme encounters distortion, they remove a portion of the new chain including the mismatched nucleotides.
The gap left by the removal is filled by DNA polymerase using the template strand
DNA ligase seals the nicks left to complete the repair.
This mechanism is also used to repair DNA damage done by chemicals and radiation like the UV in sunlight.
People with Xeroderma Pigmentosum, (faulty repair mechanism), develop skin cancer easily.
General Trends in Cost of DNA Sequencing
Cost have been decreasing as technology advances and becomes readily available
Relative Distribution of Various Components of Genome Sequence
55%: over half of your genome is dead, viruses, mobile elements, transposons junk
10%: introns are valuable but don’t code, they get transcribed but not translated
10%: is essential (e.g. telomeres) 2% of the genome codes
25%: unknown (likely junk)
proportion of human genome coding for protein
of the 10% of essential of DNA only 2% codes for proteins
difference between DNA damage and mutation
DNA Damage – physical abnormalities that can be recognized by enzymes
they can be correctly repaired by certain enzymes
e.g. pyrimidine dimers
If its nots a double stranded change its just DNA damage not a mutation
Mutation – change in BASE SEQUENCE of DNA
This change is replicated with the cell
May cause change in protein function and regulation if occurs in 2% of coding DNA
DNA Damage that does not kill the cell by blocking replication can cause replication errors which cause mutations.
different types of genomic variation among humans
SNP: single nucleotide polymorphisms
Mismatch, Excision and Proofreading fail to fix the nucleotide and since it is not repaired, SNP’s are created and replicated to create a new nucleotide sequence.
Biological Mutagens: can cause diseases (retro transpons, mobile elements)
Insertion Sequences
Non- Homologous End Joining (NHEJ) – joins ends of broken chromosomes and slap them together
CNV (copy number variations) - change in the number of copies of a chunk of DNA
Inversion: some parts of DNA are flipped or in opposite order
why African populations have more unique SNPs than other populations (ie. Asian or Caucasian).
African people have far more variation, one to the other, than other people on the earth.
This interpreted to mean that African populations (genomes) are the oldest, populations had far more time to diverge.
About 50000 years ago people migrated out of Africa into the middle east populating the earth.
difference between insertion sequences, transposons and retrotransposons
Insertion Sequences:
cut and paste
contains genes only for its own mobility
simplest type of transposable elements.
Transposase enzymes catalyze some of the recombination reactions for inserting or removing the movable element from the DNA.
Inverted Repeat: ends of the IS enables the transposase enzyme to identify the ends of TE.
Transposons:
Not jumping genes since always move by backbone recombination and never in the air.
Cut and paste
have an inverted sequence at each end enclosing a central region with one or more genes. These inverted regions however are insertion sequences which provide the transposase for movement of the element.
Retrotransposons:
move via copy and paste
mobile DNA transcribed into RNA, then RNA is reverse transcribed into DNA (using reverse transcriptase), new DNA is then inserted into genome.
why mobile elements are considered to be biological mutagens
Biological Mutagen: physical or chemical agent that changes the genetic material of organism, thus increasing the frequency of mutation
Mobile elements can damage genome of host cell in different ways which leads to disease.
Transposable elements (IS, Transposons) are biological mutagens because they increase genetic variation.
Mobile Elements in DNA for a long time are subject to mutation like the other DNA and can alter it into a non-mobile residual sequence in the DNA.
role of tautomeric shifts in mutagenesis
A-T, G-C are most stable, bases appear in these forms. Sometimes these bases can switch from their keto to enol tautomer form (Thymine can pair with guanine and cytosine can pair with adenine).
Spontaneous tautomeric shifts can cause incorrect base paring
This improper pairing is not a mismatch, it will not be protected by proofreading as it doesn’t distorts the helix.
Mutation occurs doe to inherit instability in structure of bases giving rise to mutations.
mechanism of substitution mutagenesis during DNA replication
type of mutation where one base pair is substituted for another base pair.
Point Mutation (Silent, Missense, Non Sense) where a single base pair is replaced and could affect protein genes code for.
mechanism of in/del mutagenesis during replication
Insertion/ Deletion
Caused by slippage during replication
Regions of repeated sequences are susceptible to in/del mutations
New strand loops since too long and has insertion
Template strand loops: deletion
Mutation is undirected but NOT RANDOM
There are regions of genomes that are “hot spots”
mechanism of chromosomal rearrangements resulting from double strand breaks
Cells can fix backbones, but it still can make mistakes
E.g deletion, duplication, insertion
Pieces may get inverted when putting them back together
role of UV, ionizing radiation and ROS in mutagenesis
Reactive Oxygen Species (ROS) is damaging as it breaks DNA backbones
Strong Radiation (e.g. x-rays)
Ionizing radiation cause ROS that damage DNA
UV: Photons have enough energy to destabilize electron cloud and will end up with covalent bonds linking one thymine’s to the next on the same DNA backbone
2 DNA backbones, 2 thymine’s end up bonded together
Thymine Dimers: they must be fixed
Thymine dimers repaired by excision repair and detecting dimers and cutting them out.
Cycle 4
the basic mechanism of DNA recombination in meiosis
Required:
Two DNA molecules that differ from one another
A mechanism for bringing the DNA molecule into close proximity
Collection of enzymes to cut, exchange and paste DNA back together.
Enzymes break the covalent bond in each of the four backbones
The free ends are exchanged and reattached to those of the other DNA molecule.
the stage of meiosis when recombination occurs
Recombination occurs only in prophase of meiosis 1
evolutionary advantages of gene duplication
Provides base material for further evolution (more raw material for evolution)
2 copies of gene: one can diverge to do a different job or one can be expressed in different conditions.
Zygote brings mom and dad’s DNA into the same cell
In fungi recombination occurs in the zygote but in nowhere else (plants or animals).
During prophase 1 of meiosis chromosome pair up and generate diversity
products of meiosis in animals vs. plants, fungi and algae
Animals:
Meiosis occurs forming gametes (egg or sperm) (1n)
For sperm each of the four cells produced are functional but only of the four eggs are.
Fertilization occurs to form a zygote (2n)
Mitosis then occurs duplicate cells.
Plants:
Fertilization produces the sporophytes (diploid 2n)
After sporophytes grow they undergo meiosis to produce haploid spore genetically different
Spores undergo mitosis and grow into haploid gametophytes
Some nuclei of gametophytes develop into eggs or sperm nuclei.
These eggs/ sperm from a specific gametophyte are genetically identical since they arise from mitosis
Fusion of haploid egg and sperm produce zygote to produce the zygotic sporophyte.
The gametophyte is most seen in plants. Female gametophyte remains in flowering part of plant while pollen when released fertilizes the egg of the same species creating a zygote sporophyte.
Fungi and Algae:
Diploid stage is limited to the zygote produced by fertilization of two haploid gametes (negative and positive haploids).
Diploid zygote undergoes meiosis to produce haploid phase immediately after.
Mitotic divisions occur only in haploid phase to produce spores
Spores germinate to produce haploid individuals which grow by mitosis.
Eventually positive and negative gametes are formed by differentiation of some of the cells (genetic information is still identical since all is mitosis).
main differences between meiosis and mitosis
Mitosis
sameness: same number of chromosomes, same DNA sequence
product contributes to the body that makes them
sister chromatids of each chromosome are attached to different spindles and move in opposite direction.
Produces 2 identical cells, same # of chromosomes.
Meiosis
halved chromosome number (from 2n to n) and recombined DNA sequence.
Occurs only in specialized tissues that produce gametes or spores
Sister chromatids of one chromosome are attached to the same spindle and move in same direction in anaphase 1
Only occurs in reproductive tissue
DNA replication does not proceed after Meiosis 2 is done
Resulting daughter cells are not genetically identical
characteristics of homologous chromosomes
They have the same genes arranged in the same order in the DNA of the chromosome.
Paternal Chromosome is from male parent
Maternal Chromosome is from female parent
Chromosomes have consistent shape & banding pattern
They carry the same genes but different alleles
Alleles have similar but distinct DNA sequences which encode varying RNA or proteins.
Timing of meiosis in vertebrate life cycle
When men sexually mature – being to produce gametes (cells in meiosis)
Engaging in sexual recombination
Men are always producing gametes
Females don’t engage in sexual recombination – meiosis occurs before they are born
Recombination occurred before birth – finished meiotic combination
Pregnant women are 3 generations of DNA sitting there that could suffer mutations.
reason why meiosis I is "reductional" and meiosis II is "equational"
Meiosis 1: chromosome # reduced in half- diploid to haploid
Meiosis 2 – # of chromosomes remains unchanged, similar to that of mitosis
changes in C and n during meiosis
Stage | C Value | N Value |
Prophase 1 | 4 | 2 |
Prometaphase 1 | 4 | 2 |
Metaphase 1 | 4 | 2 |
Anaphase 1 | 4 | 2 |
Telophase 1 and Interkenisis | 2 | 1 |
Prophase 2, Prometaphase 2, Metaphase 2 | 2 | 1 |
Anaphase 2 | 2 | 1 |
Telophase 2 | 1 | 1 |
how homologues pair in order for all non-sister chromatids to participate in recombination
Homologous chromosomes have same genes but different genes(alleles)
DNA sequences are similar enough to form meiotic pairing but different enough to create recombination’s
They pair on top of each other rather than side to side
Regions in which non sisters cross are called cross-overs or chiasmata
mechanism by which recombination creates new combinations of alleles
Recombo does not switch alleles of a given gene but rather all the DNA sequence stretching from the site of recombo to the ends of the participating chromatid is exchanged.
mechanism by which recombination creates copy number variation (CNV)
Unequal recombination when chromosomes are not paired up properly are CNV’s.
Can be caused by improper alignment or errors in crossing over causing duplications or deletions
Duplications can be good as one copy can diverge to evolve while other keeps original function. Gene duplication can increase genomic complexity.
mechanism of recombination during prophase
Occurs when chromosomes pair and crossover by cutting and pasting of backbones
Recombination requires cutting and pasting 4 DNA backbones
Mobile elements move by recombination, never floating around
role of cohesin and synaptonemal complex
As homologous chromosomes pair they are held tightly together by a protein framework called the synaptonemal complex.
This complex disassembles towards the end of prophase 1
Cohesion holds and regulates sister chromatids separation mitosis and meiosis
randomness of alignment of homologous pairs at metaphase I
All maternal chromosomes may line up to be pulled to one pole while the paternal chromosome to the other but it is more likely a mixture of paternal and maternal chromosomes to each pole.
The number of possibilities depends on the number of chromosome pairs in a species. It is 2number of chromosome pairs
This randomness is responsible for the independent assortment of alleles of two genes.
The possibility that two children of the same parents could receive the same combo of maternal and paternal chromosomes is (232)2
relationship between distance separating genes and the likelihood of recombination between them
The more distance between genes along a chromatid the more likely recombination is going to happen. Because a gene is closer together they are more likely to stay together during recombination (crossing over) see simutext section 2 pg. 11)
way in which meiosis can be thought of as a kind of DNA "repair". That is, how can you inherit mutations on both homologues of chromosome 6 but give a chromosome 6 with no mutations to your offspring?
Recombination provides variability that increases the chance of advantageous combinations of alleles in certain environments.
Recombination may be able to fix bad genes
Chromosomes formed by recombination can have more good genes than their originals
Although they have mutations the combination of segments from both chromosomes may be advantageous in a specific environment
Independent assortment could case all the preferred genes to go to one pole and mutations to another causing some gametes with no mutations.
overall, various mechanisms by which meiosis generates variation
Recombination of homologous chromosomes
Different combo of maternal and paternal chromosomes segregated to poles in anaphase 1
Different combo of recombinant sister chromatids segregated to the poles during A11.
Set of male and female gametes that unite in fertilization.
mechanisms giving rise to aneuploid products of meiosis
Aneuploidy: unbalanced
Non disjunction – failure to disjoin the homologues pairs at meiosis 1
Problems in M1 cannot be fixed in M2 as the cytoskeleton of M2 cannot compensate for the problems made.
Mis-division – chromatids fail to separate in meiosis 2
Cycle 5
characteristics of Mendel's work that set him apart as a genetic researcher
Gregor Mendel experiments with pea plants answered questions on how traits were inherited through offspring in 1860’s.
He was able to contradict the blending theory of inheritance which suggested traits blend evenly through mixing parents blood.
He studied characters (inheritable characteristics) and their variations (traits).
He did not know that the segregation of chromosomes to gametes influenced the inheritance patterns.
Unique because he studied characteristics in a statistical/ quantitative way.
components of Mendel's explanatory model
Mendel prevented self-fertilization (since his garden peas contained both sperm (pollen) and eggs in the same plant by cutting of the anthers. He used an anther from one plant and applied it to the stigma (where the eggs are). This is called cross pollinating.
The plants he used were true- breeding (when self-fertilized, they passed traits without change from one generation to the next.
Seeds were the result of the experiment which were scored for seed traits like smooth or wrinkled or for adult traits which include flower color.
Results in the F1 generation were the same traits as the P(parental) generations (purple flowers). In the F2 generation there was a 3:1 ratio of purple and white flowers.
First Theory: the adult plants carry a pair of factors that govern the inheritance of each character.
Allele – different versions of a gene that produce different traits of a character (two alleles of one gene that govern traits).
Second Theory: if an individual’s pair of genes consist of different alleles one allele is dominant over the other recessive one.
Dominant alleles code for functional enzymes and determine the genotype. The recessive allele codes for the non-functional enzyme. Dominant alleles don’t inhibit recessive ones.
Three results of experiment:
The genes that govern genetic characters are present in two copies in individuals.
If different alleles are present in an individual’s pair of genes, one allele is dominant over the other
The two alleles of a gene segregate and enter gametes singly.
Theory 3: Principle of segregation- as gametes are formed half of the gametes carry one allele and the other half carry the other allele. Zygote receives one allele from each parent gamete.
distribution of progeny, given parental genotypes in monohybrid, dihybrid and sex-linked crosses
The progeny from a mono hybrid cross:
¼ homozygous dominant, ½ heterozygous, ¼ homozygous recessive
For sex- linked traits, the trait is carried on the X chromosome so on both chromosomes of the female but only one for the male.
parental genotypes, given distribution of progeny in monohybrid dihybrid and sex-linked crosses
A monohybrid cross is a mating between two individuals with different alleles at one genetic locus of interest.
The characters being studied in a monohybrid cross are governed by two or multiple alleles on homologous chromosomes. Work backwards from above.
location of various alleles on homologues
Particular site on a chromosome at which a gene is located is called the locus of the gene
Alleles are located on same locus of gene on each homologues pair
segregation of various alleles during meiosis in monohybrid, dihybrid and sex-linked situations
Pair of alleles separate as gametes are formed in (M1)
½ of the gametes carry one allele and other half carry other allele
During fertilization the zygote receives one allele from male and one from the female.
Chromosome Theory of Inheritance: genes and alleles are carried on chromosomes (Walton Sutton)
number of different gametes produced, given parental genotype
Monohybrid Cross: 3:1 phenotypic ratio (Rr and Rr)
Dihybrid Cross: 9:3:3:1 phenotypic ratio (RrWw and RrWw)
arrangement of genes and alleles on homologous chromosomes in a dihybrid organism
Dihybrid: a zygote produced from a cross that involves 2 characters, heterozygous for 2 traits.
The genes for each character is located at different pairs of homologous pairs (one gene is found on chromosome 6 while another is found on chromosome 8 but still involved in the same cross.
Can also be located at different loci of the homologous chromosome.
Separation in meiosis and gamete formation is independent of separation of other pairs, as in the independent assortment of the alleles of different genes.
how independent assortment creates 4 different products of meiosis from a dihybrid parent
Independent Assortment: The alleles of the genes that govern the two characteristics segregate independently during meiosis.
Random alignment of homologous chromosomes pairs in meiosis ensures that R alleles for seed shape can be delivered independently to a gamete with either the Y or y allele.
application of the sum and product rule of probability
Product Rule
Defined as the probability that two or more events whom are independent of each other will occur. Individual probabilities are multiplied.
E.g., the sex of one child has no effect on the sex of the next child therefore the probability of having four girls in a row is ½x ½ x ½ x ½ = 1/16
E.g. probability of producing a PP zygote from two Pp parents is (½ x ½ = ¼)
Sum Rule
Applies when several different events all give the same outcome, there are six ways to get a sum of 7 when rolling two dice. (six ways of getting the same outcome).
The frequency of getting each combo is 1/6 x 1/6 = 1/36
The probabilities of rolling a total of 7 is the sum of the independent combos. 1/36 + 1/36 +1/36 +1/36 + 1/36 + 1/36 = 1/6
Probability of production of Pp offspring: Each of the ways to get Pp is ¼ + ¼ = ½
Test Cross – cross between an individual with homozygous recessive and heterozygous. This test is used to determine if an individual is dominant homozygous or heterozygous. If homozygous then all phenotypes will be of the dominant allele. If heterozygous it will be half.
pattern of offspring expected, given mechanism of epistasis
Epistasis: genes interact with one or more alleles of a gene at one locus inhibiting or masking the effects of one or more alleles of a gene at a different locus.
When one gene can mask the effect of another gene at a different location
A gene is epistatic to another if it eliminates or inhibits the activity of the gene.
Dihybrid crosses that involve epistatic interactions produce distributions that differ from 9:3:3:1
E.g labs with alleles BB or Bb have black fur and bb is brown fur.
The dominant allele E however permit pigment deposition
ee blocks off almost all pigment disposition therefor making labs yellow
thus E is epistatic to the B gene.
distinction between codominance and incomplete dominance
Incomplete Dominance: occurs when the effects of recessive alleles can be detected to some extent in heterozygous (blend).
E.g. Sickle cell disease is homozygous recessive but when heterozygous for this gene, have a condition known as sickle cell trait which is a milder form of the disease since the individual still produces normal polypeptides.
E.g. – red and white flower = pink flower
Codominance: when alleles have approximately equal effect in individuals making the two alleles equally detectable in heterozygous.
E.g. Blood Type, spotted cots
If phenotype exists because one allele can’t compensate for other: Incomplete dominance********
way in which inheritance of polygenic traits show that inheritance is not "blended"
Polygenic Inheritance: several to many different genes contribute to the same character e.g. height, skin color, body weight in humans, length in corn.
Also known as quantitative traits.
Graph of distribution of people in each class resembles a bell curve (highest in middle lowest on extremes)
Some children aren’t intermediate relative to their parents. We are not just a blend of our parents but rather quantitative traits contribute to phenotypes thereby causing variants in a specific trait.
Expression of a genetic phenotype can be influenced by the environment
Poor nutrition during infancy can limit growth
description of pleiotropic genes
Pleiotropy: single genes affecting more than one character of an organism
E.g. sickle cell disease (caused by a recessive allele of a single gene) affects hemoglobin structure, blood vessel blockage, which can damage tissues and organs in the body producing a wide-ranging of symptoms.
mechanism by which X inactivation accomplishes doseage compensation for X linked genes
Since males have one x chromosome and females have two, one of the x chromosomes in females is inactive.
Females although they have two copies for the genes on X, do not need twice as many products from these genes.
Barr Body: the inactive condensed x chromosome seen in the nucleus of female mammals. Inactivation is not incomplete
As a result of this equalizing method the activity of most genes carried on the X chromosome is essentially the same in cells of males and females.
Cycle 6
general pathway of eukaryotic membrane protein production.
Transcribed in nucleus – translated in cytoplasm – packed by ER, vesicles, golgi complex –packed in membrane bound vesicles – then taken to membrane
general physiology of skin/hair pigmentation.
Skin and Hair come from melanin
Made by specialized skin cells called melanocytes
There are two types of melanin:
pheomelanin (yellow to red)
Eumelanin (black)
Melanin is stored in melanosomes and each type has its own melanosome
Melanocytes transfer mature melanosomes to cells called keratinocytes which give skin and hair tis colour.
Red melanosomes: red or blonde hair
Black melanosomes: create black hair or dark skin
A mixture of black and red melanosomes creates brown hair and skin
characteristics of dominant alleles.
In heterozygotes, the allele that determines the phenotype is the dominant allele
Which allele makes the “always on protein”
Black melanin is dominant since it is always on unless suppressed by hormone
which allele in a heterozygote is dominant, given the biochemical mechanism of action of allele products.
Check offspring production.
Will give you biochemical mechanism and determine what allele is dominant
whether or not the dominance status of an allele affects its frequency over time in a population.
Dominance/ recessives does not influence selection.
Dominance does not cause selection towards it.
Being dominant or recessive affects phenotype but if equal chance of survival (no selection), being dominant or recessive has no influence over fait of allele.
E.g. blonde hair won’t die out since it does not make you more likely to survive
function of black, brown and red MC1R alleles as described in SimuText.
Melanocortin 1 receptor (MC1R) lies on membrane of melanocytes and is triggered by hormones
Depending on signal received or not, the MC1R receptor tells the melanocytes to produce eumelanin or pheomelanin.
Black Allele:
B allele
When MC1R is activated or on cyclic AMP levels in the cell are high and melanocyte produces eumelanosomes.
Even if ASP is present (R allele) eumelanosomes are still produced
Dominant over brown allele
Red Allele:
R allele
ASP released by nearby cells inactivates MC1R and cAMP levels fall
Even without ASP it is inactive
When cAMP levels are low enough the cell produces pheomelanosomes.
R allele is recessive to both W and B since they are at least somewhat activated, increasing cAMP and overriding the always of R version
Brown Allele:
W allele causes both types of melanin to be produced
Recessive to the b allele
explanation for spotted coat color in pigs as described in SimuText.
S is derived from the B allele which is always on
In most cells the S allele however produces pheomelanin only as it contains a mutation that destroys MC1R’s ability to function at all.
Back mutations can occur during mitosis that restore MC1R’s ability to function as a B allele during mitosis.
As a result, an SS cells can sometimes produce SS and SB daughter cells.
Since they compose of both, they are mosaics with red fur but black spots.
conditions under which allele frequencies change, or not, in a population over time
Difference between quantitative and qualitative variation
Quantitative Variation: individuals differ in small incremental ways (height, weight, number of hairs)
This data is displayed in bar graphs or a curve (width of curve represents variation)
Qualitative Variation: exist in two or more discrete states, and intermediates forms are often absent. Eg snow geese either have blue or white feathers, no pale blue.
Polymorphism: existence of discrete variants of a character. These traits are called polymorphic.
Human A, B, AB, O blood types is a Biochemical Polymorphism.
Sources of phenotypic variation, and which of these is/are heritable
Genetic Differences between Individuals
Genotypic and phenotypic variation is not perfectly correlated since different genotypes can have the same phenotype (dominant and homozygous).
Differences in the Environmental factors
Acidity of soil influences flower color
Interaction between Genetics and Environment: one field of wheat could produce more grain due to the availability of nutrients but could be also affected by genetic differences in two different fields.
Only genetically based variation is subject to evolutionary change.
Natural selection operates on the entirety of a phenotype not genotype as phenotype is what turns out to be successful or not.
Meaning of directional, stabilizing, disruptive selection
Directional Selection: when individuals at one end of the spectrum are most fit. The traits mean value is shifted left or right after selection.
E.g. predatory fish promote directional selection for guppies to larger bodies since smaller bodies are feed on more.
Very common in artificial selection since aimed at increasing or decreasing specific phenotypic traits.
Shifts a phenotypic trait away from the existing mean.
Stabilizing Selection: individuals expressing intermediate phenotypes have the highest fitness.
Reduces phenotypic variation in population
Most common mode of selection in familiar traits like newborns weight.
Disruptive Selection: when extreme phenotypes have increased phenotypes than intermediates.
The extreme phenotypes promote polymorphism since the extremes become more common.
Least common mode of selection.
Increases phenotypic variation.
How each of the above modes of selection affects phenotypic variation in a population
See above
Meanings of gene pool, genotype frequencies, allele frequencies, genetic equilibrium
Gene Pool: sum of all alleles at all gene loci in all individuals in a population
Genotypic Frequencies: percentages of individuals possessing each genotype.
Allele Frequencies: relative abundance of different alleles.
Genetic Equilibrium: the point at which neither allele frequencies change in succeeding generations.
How to calculate allele frequencies, given observed genotype frequencies
p and q represent the allele frequencies
How to calculate genotype frequencies expected under genetic equilibrium
Genetic Equilibrium: point at which neither allele frequencies nor genotype frequencies change in succeeding generations.
P2 and q2 are the expected genotypic frequencies for homozygous genotypes and 2pq is the genotypic frequency of the homozygous genotype.
These frequencies stay the same from population to population that are under genetic equilibrium.
(p + q) x (p + q) = p2 + 2pq + q2
Identify populations that are, or are not, at genetic equilibrium, given observed genotype frequencies
The Hardy-Weinberg principle is a null that serves as a reference point for evaluating circumstances where evolution may occur.
If genotypic frequencies of the next offspring do not match the predictions of genetic equilibrium than evolution may be occurring.
Determining which condition is not met is the first step in understanding why gene pool is changing.
Conditions that must be met for genetic equilibrium to occur
No mutations are occurring
The population is closed to migration from another population
Population is infinite in size (no genetic drift)
All genotypes in the population survive and reproduce well (no selection)
Individuals mate randomly with respect to traits being considered
Allele frequencies don’t change if they meet these conditions. Evolution occurs if they do change.
How the dominance status of alleles affects their frequency, in the absence of selection
Even if dominant over another in the absence of selection, allele frequency does not change
Dominance and excessiveness of alleles do not cause evolution. Every individual and phenotype has an equal likelihood of surviving and reproducing.
As long as there is no selection, the allele frequencies in population remain relatively the same.
How the dominance status of alleles affects the response to selection
Selection against dominant alleles would cause the allele to disappear
If there is a harmful dominant allele, population can remove that allele
Selection removes genetic variation from the population
Selection against recessive allele will not cause the allele to disappear.
Will just decrease in frequency
Heterozygous fitness is fine so recessive allele can hide from selection
There can be selection that does not result in evolution.
Difference between positive and negative frequency – dependent selection, and how each affects genetic variation
Negative Frequency – Dependent Selection:
Rare phenotypes have advantage (increases in frequency)
Common has disadvantage (decrease in frequency)
Maintains genetic variation in population
Increases frequency of rare alleles and decreases frequency, of common, until common become rare and it switches
Positive Frequency – Dependent Selection:
Rare alleles phenotypes have a disadvantage (decrease in frequency)
Common have an advantage (increase in frequency)
Eliminates genetic variation in population
Removes rare phenotype completely
Effect of heterozygote advantage on genetic variation
- Heterozygote have higher fitness (WRR= WSS < WRS)
Sometimes heterozygotes can have different phenotypes from either homozygote (incomplete dominance/ codominance).
With pigs s allele is a lot of spots, no s is no spots but if heterozygote its an intermediate of a little and lot of pigs.
Both alleles get maintained. Genetic variation is maintained as both allele frequencies reach 0.5.
More common alleles will decrease and less common will increase reaching 50/50.
Evolution is not occurring when population reaches genetic equilibrium of 50/50 even though there is selection.
Similarities between negative frequency dependent selection and heterozygous advantage
This will cause the most common phenotype to decrease in frequency as the allele for the rare alleles are most common and the more rare one to increase
Will cause 50/50 split (relatively close)
Effect of heterozygote disadvantage on genetic variation
Advantage maintains diversity and allows alleles to reach a genetic equilibrium
WRR = WSS > WRS
Whichever allele has a higher frequency will increase in and reach one and lower frequency to start will reach 0 in heterozygote disadvantage.
Has opposite effect as heterozygous advantage: has to do with the fact that the frequency of an allele whether common or rare influences how likely the allele will be found in homo or heterozygotes.
Rare alleles are mostly found in heterozygotes so they decrease in frequency thereby approaching zero in HD.
Similarities between positive frequency- dependent selection and heterozygous disadvantage
In both cases the rare phenotype frequency decreases until it hits zero
The most common phenotype will have an advantage
Whether selection always results in evolution
Evolution only occurs when allele frequencies change. Once at equilibrium due to selection, the frequencies do not change.
Therefore, it is possible to have selection without evolution. Even though it is not in Hardy-Weinberg it is not evolving.
Processes that reduce, remove, or maintain heritable variation in populations
Reduces Variation:
Genetic Drift: (bottleneck, founders effect)
Non-Random Mating: inbreeding decreases variation as homozygous traits are common.
Increases Variation:
Gene Flow: introduces new genes to population
Mutations: introduces new genetic variation, crossing over in meiosis
Effect of non-random mating (e.g., inbreeding) on allele frequencies and on genotype frequencies
Inbreeding: special form of nonrandom mating where genetically related individuals mate.
Self-fertilization occurs in plants (pollen of plant fertilizes egg of the same plant) and occurs in some animals
Organism in small, relatively closed populations carry the same alleles
Inbreeding increases frequency of homozygous genotypes and decreases heterozygous.
Amish as discussed also are affected by inbreeding increasing expression of disease.
Does not generally change allele frequencies but prevents genetic equilibrium.
Being out of HWE does not mean evolution is occurring. Even though it violates an assumption that allele frequencies stay the same.
Assertive mating: mating with people that look like you
There is no selection (same number of offspring) and the only violation of HW is nonrandom mating. Allele frequencies are the same but no longer in HW equilibrium.
Disassortive Mating: mating with different phenotypic
Effects of genetic drift and gene flow on variation within a population
Gene Flow (Immigrants)
Gene flow is the transfer of genes from one population to another through the movement of individuals or gametes.
Immigrants who reproduce may introduce novel alleles shifting its allele and genotype frequencies. It is not just movement alone that fosters gene flow.
Dispersal Agents: responsible for gene flow in plant populations. E.g. pollen carrying wind or seed carrying animals.
Contribution to a gene pool by immigrants must occur to foster gene flow and variation.
Gene flow is dependent on the genetic variation between populations and the rate of gene flow between them.
Genetic Drift (By Chance)
Chance events that cause allele frequencies in a population to change unpredictably
Has more of an effect on smaller populations violating the Hardy Weinberg assumption of an infinitely large population.
Easier for allele frequencies to be drastically changed.
Generally, leads to loss of alleles and reduced genetic variability
Bottleneck Effect
When a stressful factor like disease, starvation or drought reduced a population greatly and eliminates alleles reducing genetic variation.
Analogy: when environmental event occurs, only a certain number of alleles will pass through a bottle neck and increases likelihood of rare alleles being eliminated.
Founders Effect
A population that was established by a few individuals has only a fraction of genetic diversity.
Some alleles may be missing or rare alleles back home might be high in frequency
13% of Amish of Pennsylvania carry a rare recessive allele for dwarfism, shortened limbs and extra fingers. All individuals with these syndromes are descended from a couple who helped founded the community in mid 1700’s.
Relative fitness for each genotype, given a set of absolute fitnesses
Selection is when different genotypes have different finesses
Absolute Fitness(W): average number of surviving offspring for each genotype.
Eg WAA=20 Waa= 15 Waa= 12 Selection is happening
Relative fitness(w): divide absolute fitness by absolute fitness of most successful genotype(w = W/Wmax).
Therefore, most successful will have a relative fitness of 1 and all others will have 1 or less.
**What type of selection is operating, given a set of relative fitnesses
How genetic drift can affect allele frequencies even in the absence of bottlenecks or founder events
Random changes in frequencies due to sampling errors. Random changes in allele frequencies are always happening.
Reduces genetic variation over a long period of time… happens by chance.
It is not a self-correcting process the fact that an allele decreases in one generation does mean it will increase in the next. It is random regardless of what happens in a previous generation.
*Which assumptions of Hardy-Weinberg equilibrium have likely been violated, given an observed set of genotype or phenotype frequencies
No mutations are occurring
The population is closed to migration from another population
Population is infinite in size (no genetic drift)
All genotypes in the population survive and reproduce well (no selection)
Individuals mate randomly with respect to traits being considered
If observed genotype does not match expected, then HWE is violated and external factors caused discrepancies such as selection pressures or small population.
Cycle 7
Examples of genetic exchange/ recombination without reproduction, and of reproduction without genetic exchange/ recombination
Reproduction without sex: binary fission
Sex without reproduction: bacteria exchanging genetic info
How recombination contributes to population genetic variation
Generates new multilocus combinations of alleles
Offspring are genetically different from parents
Meanings of monoecious, dioecious
Dioecious: separate sexes mating
Monoecious: individual is male and female (hermaphroditic)
Difference between sequential and simultaneous monoecy
Simultaneous: can be both sexes at once
Sequential: can change from male to female or female to male
Examples and predictions of size-advantage model of sex change
M to F: Protandry - F to M: Protogyny
Examples and predictions of adaptive sex ratio manipulation
Which offspring sex has more to gain from being in good condition?
Which offspring sex has less to lose from being in poor condition?
Ex: male blue birds with bright feathers will mate more and produce brighter males, male blue birds with dull feathers won’t mate a lot and produce more daughters
Reason why most populations have 1:1 sex ratios
When ratio is 1:1, there is no sexual advantage to being male or female
When lots of males, there are not as many females to mate with and male advantage goes down, vice versa
Prevalence of sexual vs asexual reproduction in animals, plants and other forms of life
First living things reproduced asexually
Most organisms reproduce asexually
Costs of reproducing sexually as opposed to asexually
Asexual populations grow 2x as fast since they don’t rely on males to fertilize females
Benefits of reproducing sexually as opposed to asexually
Increases rate at which disadvantageous mutations can be discarded
Increases rate at which advantageous mutations can be brought together
Decreases likelihood of extinction
Recombination speeds up evolution
How environmental stability influences whether sexual or asexual reproduction is
favoured
Sexual reproduction is favoured when there is an immediate advantage that increases fitness of individuals due to their diversity
Lottery principle and Red Queen principle as environmental (short-term) benefits of sex
Sexual reproduction is favoured if environment is likely to change
Lottery Principle: buying many copies of the same ticket (asexual) VS buying many different tickets (sexual)
Red Queen Principle: “it takes all the running you can do just to stay in the same place” 🡪 the world around us is constantly evolving rapidly and we must evolve to keep up
How sexual reproduction places different selective forces on males vs. females
An attractive trait might not increase survivability
Males have many traits that might not benefit them
Males must compete for access to females
Distinction between intrasexual selection and intersexual selection
Intrasexual Selection: direct competition between males for access to females
Intersexual Selection: traits that females prefer in one male over another
Why males usually compete for access to females (rather than vice versa), and why in some species this pattern is reversed
It’s easier for females because they invest more in reproduction whereas males have to be given the right to be the father
It’s a lot easier for females to find willing partners
Males can always increase their mating success
Which sex has higher potential fitness
Males, since they can produce many offspring
Which sex has higher average fitness
They have the same
Relationship between sexual selection and parental investment
Females invest more (usually), thus females are choosy and males compete
If parental investment is equal between both sexes (ex: humans, penguins), both sexes are choosy
Advantages and disadvantages of living in a group
Advantages: helps capture prey, improves defense,
Disadvantages: increased competition for food, dominant individuals get priority
Meaning of dominance hierarchy, kin selection, altruism, reciprocal altruism, eusocial, haplodiploidy
Dominance Hierarchy: social system in which behavior of each individual is constrained by that individual’s status in a highly structured social ranking
Kin Selection: allowing close relatives to produce proportionately more surviving copies of altruist’s genes than the altruists themselves could
Altruism: individuals sacrifice their own reproductive success to help others
Reciprocal Altruism: individuals help nonrelatives if they are likely to return the favour in the future
Eusocial: a form of social organization in which numerous related individuals live and work together in a colony for the reproductive benefit of a single queen and her mate
Haplodiploidy: sex determination in insects in which females are diploid and males are haploid
Calculate degree of relatedness between two individuals, given the type of relationship (parent-offspring, cousins, etc)
Likelihood 2 siblings will receive same allele from mother at the same time is (0.5)(0.5) = 0.25
Each link drawn in family tree represents 0.5
Identify why haplodiploidy can favour high levels of cooperation in social insects
They are all related, therefore they wish to care for their siblings because they are all 75% related
One of their siblings may become the future queen
Whether a particular social behaviour represents cooperation, competition, spite or altruism
Why "altruistic" and "spiteful" behaviours are both difficult to reconcile with natural selection
Spiteful individuals have low fitness
How kin selection theory explains the persistence of helpful behavior
If benefit to the actor’s indirect fitness outweighs the cost to the actor’s direct fitness, behavior is favored by kin selection
Helpful behavior is favoured if rb > c (b = benefit, r = degree of relatedness, c = cost to actor’s direct fitness)
Situations in which kin selection does, or does not, favour helping non-descendant relatives
Decreases individual fitness but increases overall fitness of population
However, anything that reduces an individual’s fitness is vulnerable to being selected against
Meaning of direct fitness, indirect fitness, inclusive fitness
Direct Fitness: producing your own descendant offspring
Indirect Fitness: offspring produced with the help of the actor (increases the # of related alleles in the population)
Why interests of parents may conflict with interests of their offspring
Helping create more offspring for your parents can have a better benefit than producing your own offspring
“Do I help my parents or do I help me?”
Meaning of cultural intelligence, ultimatum game, rational maximizer
Cultural Intelligence: the capability to relate and work effectively across cultures
Ultimatum Game: proposer is offered money and can decide whether or not to share it. If responder rejects offer, neither of them get anything. Economic model predicts the proposer will offer the responder the minimum reward.
Rational Maximizer: will accept an offer regardless of how low. Even 20% of the original is better than nothing.
Similarities and differences between humans and closely related species (eg chimpanzees) in cognitive ability, "cultural intelligence", response to the "ultimatum game", and the value of fairness
Chimps are rational maximizers, whereas humans value fairness.
Relative risk of child abuse in families in which not all the adults are genetically related to all of the children
Chance that a young child would be subject to criminal abuse was 40x higher when children lived with one stepparent and one genetic parent.
Might be more difficult for people to invest in children that share no genetic info with them.
How asymmetries in relatedness can generate conflict between relatives
Asymmetry in relatedness 🡪 disagree over when helpful behavior is appropriate
If helping your brother benefits him (b) but costs (c) you, it depends on how big the benefit is
Your brother is half as valuable to you as you are to yourself, therefore to help your brother b > 2c
To your mom, you and your brother are equally valuable so your mom wants you to help your brother as long as b > c
To your brother, he is twice as valuable as you so your brother asks you to help whenever b >
Conditions that favour or disfavour cooperation between non-relatives
Mutual cooperation gives a better outcome is better than mutual betrayal
Mutual betrayal is the rational outcome
Most recent common ancestor (MRCA) for a given group(s), given a phylogenetic tree.
Homologies: similarities due to similar ancestors
Common ancestor for all living things is called LUCA (Last Universal Common Ancestor)
Only one LUCA, many MRCAs, one for each grouping
Why the idea that “humans are descended from chimps” is inaccurate.
Chimps and humans have a MRCA that is not exactly like chimps or humans
Why some traditional groupings of organisms (“reptiles”, “fish”) do not reflect evolutionary relationships
There are things we call monkeys that are more closely related to humans than of other monkeys which is alarming. (Old world monkey vs New world monkey)
Names we give organism ought to reflect their evolutionary relationships
For reptiles it is not a sensible name to give a group of organism
Evolutionary relationships between groups of reptiles are more closely related to birds than with turtles. Although turtles are reptiles, some reptiles are more closely related to birds than turtles.
Fish does not reflect evolutionary relationships: they have multiple rendezvous points,
Lung fish are closer related to us (humans) or birds than they are to other fish.
Term prokaryote is not a good term to describe evolutionary relationships as archaea are more closely related to eukarya than bacteria.
How the relative position of fossils in sedimentary rock strata (higher vs lower) reveals their relative age
Lower = older
Higher = newer
Ways in which fossils can form
Dissolved minerals can enter the spaces within bones and solidify (fossil skeletons)
Can be preserved in amber (tree resin) to show fine details
Moulds or impressions
Footprints on mud
Reasons why the fossil record is incomplete
Very few organisms fossilize completely
Some organisms are more likely to fossilize than others
Natural processes destroy many fossils
Importance of animal skeletons to the fossil record
Hard tissues lend themselves to mineral fossilization
Soft tissues are usually fossilized as moulds
Approximate age of the first living things, the first eukaryotes, and the first multicellular eukaryotes, based on fossil evidence
First living thing: 3.5 billion years ago
First eukaryote: 2 billion years ago
First multicellular eukaryote: 1.2 billion years ago
What types of traits are useful in determining evolutionary relationships
Characters that are independent markers of underlying genetic similarity and differentiation
Traits in which phenotypic variation reflects genetic differences, while trying to exclude differences caused by environmental conditions
Ex: tropical lizards can climb trees with sticky pads under their toes. They use the # of pads on the 4th toe of the left hind foot. They wouldn’t consider the right foot’s 4th toe as a separate character.
They don’t care about fine details, its more about the bigger picture
Meanings of mosaic evolution, ancestral character, derived character
Mosaic Evolution: some characters evolve slowly, while some evolve rapidly. Every species shows a mixture of ancestral and derived characters
Ancestral Characters: old forms of traits present in distant common ancestors
Derived Characters: new forms of traits
Whether ancestral or derived characters are more useful in determining evolutionary relationships
Derived characters are more useful because they provide the most useful knowledge about evolutionary relationships. Unless derived characters are lost or replaced, they can serve as markers for entire evolutionary lineages.
Ways in which cladistic systematics differs from traditional evolutionary systematics
Cladistics ignores morphological divergence, producing phylogenetic hypotheses and classifications that reflect only the branching pattern of evolution
Species that share derived characters are put in one group
Recognize monophyletic and non-monophyletic groupings (taxa), given a phylogenetic tree
Difference between homologous and homoplasious traits
Homologous: same shape but different function
Homoplasious: characteristics shared by a set of species, but not present in their common ancestor. Ex: flattened tails of beavers and platypuses are homoplasious
Relatively close and relatively distant relatives, given a phylogenetic tree
Look at how far apart the branches are from each other
Look for how far the MRCA is
Whether or not two phylogenetic trees convey the same information
Phylogenies can be moved around in orientation and still mean the same thing
Branching pattern MUST stay the same, but nodes can be rotated
Monophyletic and non-monophyletic groupings, given a phylogenetic tree
Monophyletic groups must include ALL of the descendants of the group’s MRCA (clades)
Non-monophyletic groups don’t show all of the descendants of the MRCA
Meaning of synapomorphy, symplesiomorphy, autapomorphy; and know which of these is considered informative in cladistic analysis
Synapomorphy: shared, derived traits (ex: birds and turtles share a trait, but lizards do not) USEFUL!!
Autapomorphy: unique to a single taxon, derived trait (ex: birds have feathers, but lizards and turtles don’t) NOT helpful for cladistics analysis
Symplesiomorphy: shared by 2 or more taxa, ancestral trait (ex: birds turtles and lizards all have the same trait from their MRCA) NOT helpful
Traits that are probably derived vs probably ancestral, given a phylogenetic tree and a suitable outgroup
Probably Ancestral:
present in the outgroup AND the ingroup
present in outgroup and SOME of ingroup
Probably Derived:
absent in outgroup, present in SOME of the ingroup
Unknown:
present in outgroup, but NONE of the ingroup
absent in outgroup, present in ALL of ingroup
Distinction between parallelism and convergence, and how both of these differ from homologous similarities
Both used to describe the tendency of organisms living under the same conditions to develop similar bodies
Convergent Evolution: refers to distant phylogenically related organisms
Parallel Evolution: closely related organisms
Whether carnivorous plants have likely evolved once or multiple times, and thus whether this trait is homologous or homoplasious
They likely evolved many times
Thus they are homoplasious
How the principle of parsimony informs outgroup analysis and helps identify the most likely phylogeny
Whichever tree requires the fewest evolutionary changes (gains/losses), is probably correct
Example:
Ingroup:
Chicken - No milk, No fur, Wings, Beak
Bat - Milk, Fur, Wings, No beak
Chipmunk – Milk, Fur, No wings, No beak
Outgroup (use something distantly related but not too distant):
Shark – No milk, No fur, No wings, No beak
Traits that are, and are not, synapomorphies (given a suitable outgroup and a distribution of traits)
Is “having a beak” a synapomorphy?
No It’s not shared, only one species has the beak
Which phylogeny is more parsimonious, given a suitable outgroup and a distribution of traits
Distinction between homology and homoplasy
Homology: similarity that reflects recent common ancestry
Not all similarities are homologies
Homoplasy: misleading similarity or dissimilarity (convergence and divergence)
Ex: placement of eyes in crocodiles and hippopotamuses, placed at the top because they need to see above water, not because they are closely related (convergence)
Ex: Darwin’s finches are very related but have very different beaks (divergence)
Homoplasious traits have a superficial similarity (shape, colour) but deep structure are very different 🡪 ex: bats and flies both have wings, but made up of very different structures
Most likely phylogenetic tree of a group of organisms, given a suitable outgroup and a matrix of traits
Think about which trait the common ancestor probably had (if outgroup and SOME of ingroup has trait)
Look for autapomorphies (only ONE of ingroup has the trait)
Which traits are synapomorphies?
Criteria used by the morphological, biological and phylogenetic species concepts to define species
Species: a population of organisms capable of interbreeding and producing fertile offspring
Morphological Species Concept:
Idea that all individuals of a species share measurable traits that distinguish them from individuals of other species
Applications – Identifying species of fossilized organisms
Weakness – Consider the variation in shells of snails. How can a variety of shells represent only one species of snail? Morphological species definitions tell very little about the evolutionary processes that produce new species
Biological Species Concept:
Idea that all individuals of a species can interbreed and produce fertile offspring
If members of 2 populations can interbreed and produce fertile offspring, they belong to the same species
Genetic Cohesiveness – Populations of the same species experience gene flow, mixing their genetic material. Thus, a species is like one large gene pool
Genetic Distinctness – Populations of different species are reproductively isolated; thus they cannot exchange genetic info. The evolution of reproductive isolation between populations.
Weakness – Does not apply to organisms that reproduce asexually (bacteria, protists, fungi, plants)
Phylogenetic Species Concept:
A concept where a species is the smallest population that can be united by shared derived characters.
They construct a tree of life for organisms of interest, tiniest twigs are species.
Advantage – Can be used on any group of organisms
Weakness – Detailed evolutionary histories have not been described for many species so biologists cannot apply the phylogenetic species concept to all forms of life.
Distinguish between pre-zygotic and post-zygotic isolating mechanisms and recognize examples of each
Reproductive Isolating Mechanism: Any biological characteristic that prevents gene pools of 2 species from mixing.
Pre-Zygotic Isolating Mechanisms
Exerts their effects before production of a zygote
5 Types: ecological, temporal, behavioural, mechanical, and gametic
Ecological – species living in the same geographical region experience isolation if they live in different habitats. (ex: lions live in open grasslands and tigers live in dense forests, the 2 species do not encounter eachother)
Temporal – species living in the same habitat, if they mate at different times of the day/year. (ex: different fruit flies mate in the morning and some at night, different flowers release pollen in different months)
Behavioural – when signals used by one species are not recognized by another. (ex: a specific female bird song is not recognizable to other species of birds)
Mechanical – differences in the structure of reproductive organs or other body parts. (ex: plants have certain structures that allow only certain pollinators)
Gametic – an incompatibility between the sperm of one species and the eggs of another. (ex: surface proteins on gametes of each species recognize eachother and different species won’t match)
Post-Zygotic Mechanisms
Exerts their effects after production of a zygote (when pre-zygotic mechanisms between 2 closely related species are ineffective, they will be isolated if the hybrids have lower fitness)
3 Types: hybrid inviability, hybrid sterility, hybrid breakdown
Hybrid Inviability – hybrid organisms frequently die as embryos or at an early age because the developmental instructions from each parent do not interact properly. (ex: domestic sheep and goats can mate but the embryos always die before coming to term)
Hybrid Sterility – when the hybrids do survive, but cannot produce functional gametes. These hybrids have 0 fitness since they produce no offspring. (ex: Mules, the product of a female horse (2n = 64) and a male donkey (2n = 62) are always sterile)
Hybrid Breakdown – hybrids are capable of reproducing but their offspring either have reduced fertility or reduced viability. (ex: crosses between fruit fly species can produce functional hybrids, but offspring experience a high rate of chromosomal abnormalities)
Whether coming into secondary contact is required for speciation to occur
Secondary contact is not necessary
All that needs to happen is to separate a single population and have it diverge due to selection
Ways in which secondary contact can affect speciation
Depends on how long the populations have had to diverge
Populations may resume interbreeding if secondary contact happens soon after isolation
Populations might have become partly or completely reproductively isolated 🡪 secondary contact has no effect
Whether prezygotic or postzygotic isolating mechanisms tend to be more costly
Postzygotic isolating mechanisms waste a lot of reproductive effort
You are investing lots of time into an offspring that ends up dying or reaches a reproductive dead end
Mutualistic, competitive and antagonistic relationships between species, given 'real world' examples
Mutualistic: both species benefit (ex: ants live on a tree, protecting it from predators but using it as a source of food and shelter)
Competitive: both species may experience a cost (ex: lions and cheetahs fighting for food, species all sharing at the same water resource)
Antagonistic: one may use the other as a resource (ex: a caterpillar eats a plant, hosts and parasite)
Factors that advantage one side or the other in an evolutionary arms race
Keeps escalating until costs of continuing to escalate outweigh the benefits
Follows life-dinner principle
Meaning of 'life-dinner principle'
What’s on the line if they don’t win the arms race?
There’s stronger selection pressure on the prey
If the prey loses, it dies, but if the predator loses, it simply has to find another meal
Difference between prudent-parasite hypothesis and trade-off hypothesis, in terms of the evolution of virulence
Prudent-Parasite Hypothesis: virulence (strength of damage the parasite causes) decreases over evolutionary time
Trade-Off Hypothesis: parasites balance costs/benefits of virulence
Factors that influence the optimal virulence of a given host/parasite relationship
Transmission mode, host ecology
Costs and benefits of being highly virulent (from the point of view of the parasite)
Benefits: increases competition between the host, helps transmit it to new host individual
Costs: kills the host quickly, so lifespan is short
Why improving equipment for survival does not always translate into 'winning' an evolutionary arms race
If a predator adapts overtime to run faster, their prey also adapts to run faster, thus, there is no higher success
Competing theories about where modern humans (Homo sapiens) evolved, and which is best supported by available evidence
African Emergence Hypothesis:
Early hominin descendants left Africa and established populations in the middle east, Asia, and Europe. Later, Homo sapiens arose in Africa and also migrated.
Homo sapiens drove hominins to extinction
Genetic data supports this hypothesis
It was later confirmed from work on the Y chromosomes that people from all over the world were all descendants of a single migration out of Africa
Multiregional Hypothesis:
Populations of H. erectus and archaic humans spread through Europe and Asia and modern humans evolved from their descendants.
How different species concepts resolve (or do not resolve) the question of whether Homo sapiens, neandertals and Denisovans were all members of the same species
Vital components of our immunes system were acquired through the HLA-B*73 allele inherited from Denisovans in west Asia 🡪 some HLA haplotypes entered modern European and Oceanian populations from both neandertals and Denisovans
Genomic analysis shows that ancestors of modern humans interbred with both neandertals and Denisovans 🡪 therefore all one species under biological species concept
Morphological evidence from fossils is incomplete thus the phylogenetic species concept cannot be used
Arguments for and against the idea that human are no longer evolving
For:
Humans now are very similar to humans hundreds of years ago
Against:
Genetic Drift is occurring
Population size is continually growing (increasing helpful mutations)
Evidence for recent evolution in humans
Selective Sweep: when a favourable new mutation increases in frequency, adjacent stretches of DNA come along for the ride (hitch-hiking)
Recently selected alleles have little variation in surrounding
Eventually, recombination introduces variation around the favourable allele
Detecting selective sweeps allows you to estimate the age of the selection event by analyzing the sequence variation around polymorphisms
Adaptations have been found for new food sources, and higher altitudes
Costs of large brains
Brain is only 2% of body weight but takes up 20% of your energy
Logistics of childbirth (large head is hard for females to give birth)
Possible advantages of large brains as proposed by the "utility hypothesis" vs. the "mating mind hypothesis"
Utility Hypothesis: language, tool use, and planning are needed in order for survival
Mating Mind Hypothesis: art, wordplay, humour, and music are needed in order for mating success.