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Gene
unit of heredity
ex. tongue rolling
Allele
variation of a gene
ex. can or can’t tongue roll
Homozygous
both alleles are the same
ex. AA or aa
Heterozygous
alleles are different
ex. Aa
Dominant
trait that masks the other trait
Recessive
trait that gets masked
Genotype
combination of alleles that an individual has
Phenotype
physical characteristics the person displays
Gregory Mendel
experimented on pea plants which showed genetic inheritance
Monohybrid cross (punnett square)
only looking at a single characteristic
Dihybrid cross (punnett square)
looking at 2 characteristics
illustrates independent assortment
Test cross
take an unknown genotype (dominant phenotype) and cross with recessive (phenotype) to find if it is dominant or recessive
Dominant pedigree
phenotype shows up in every generation
Recessive pedigree
have to have homozygous recessive to have phenotype
has carriers
can skip a generation
Carrier
heterozygous individual who carries recessive gene but does not have phenotype
Autosomal pedigree
any information not on sex chromosomes
X-linked pedigree
traits are linked to X chromosomes
Consanguineous
mating between blood relation (shown as a double line on pedigree)
Co-dominance (incomplete dominance)
neither characteristic expresses itself over another
ex. mating red and white flowers produces pink flowers
consequence: genotypical ratio = phenotypical ratio
Polygenic Inheritance
many gene inheritance or characteristics that are influenced by more than one gene
ex. height
X-linked characteristics
genes that are inherited by the x sex chromosome
females should all be carriers of the characteristics and males display phenotype if they inherit the infected x
Central dogma of biology
DNA replication → transcription → RNA → Translation → protein
Nucleotides
5 carbon sugar, phosphate, nitrogenous base
DNA
deoxyribose sugar, CGAT, and double stranded
RNA
ribose sugar, CGAU, and single stranded
Phosphodiester bond
links 2 nucleotides together
5’ end of 1 nucleotide to 3’ end of other
Backbone of DNA
sugars and phosphates connected with phosphodiester bond
Hydrogen bonds
hold together nucleotides in DNA and is strong in numbers
Chargaff rules
amount of cytosine always equals guanine and bonded with 3 hydrogen bonds
amount of thymine always equals adenine and bonded with 2 hydrogen bonds
Purines
adenine and guanine
2 rings
Pyrimidines
Cytosine, Thymine, and Uracil
1 ring
How DNA replicates
semi-conservative manner
Primase
lays down RNA primer and acts as an RNA polymerase
Leading strand
synthesizes new strand of DNA continuously
DNA ligase
joins together fragments on the new strand of DNA
DNA polymerase I
removes primer and synthesizes DNA in a 5’ to 3’ direction
DNA helicase
“unzips” the DNA by separating base pairs
DNA polymerase III
synthesizes DNA in a 5’ to 3’ direction on the main poymerase
Lagging strand
synthesizes new strand of DNA discontinuously
Okazaki fragments
fragments of synthesized DNA on the lagging strand
RNA primer
sequence of RNA bound to DNA to get DNA polymerase III to synthesize DNA
rRNA
part of the ribosome and helps make up its complex
mRNA
takes message of DNA codon from nucleus to ribosome
tRNA
transfers amino acids to the ribosome, contains the anticodon, and there are 64 versions of them
Properties of the genetic code
degenerate or redundant → multiple codons code for the same amino acid
Universal
both minimizes affects of mutations
Missense mutation
changes one amino acid that the codon codes for
ex. AAA → CAA
Silent mutation
the codon changes but it does not change the amino acid it codes for
ex. GCG → GCA
Nonsense mutation
when the codon codes for the polypeptide to stop prematurely
ex. UUG → UAG
Frameshift mutation
addition or deletion of a nucleotide which changes the reading frame thus changing the whole peptide
Genetic variation
differences in alleles of genes found within individuals in a population
evolution results in a change in the genetic composition of a population
is the raw material for selection
is the rule in nature
Evolution
how an entity changes through time
changes in allele frequencies
Charles Darwin
believed species developed differences as a result their descendants are different from ancestors and new species form
proposed natural selection as mechanism of evolution
ex. the giraffes with longer necks could reach more food so they had more offspring and that trait became dominate
Jean-Baptiste Lamarck
believed evolution was by inheritance of acquired characteristics
everything ancestors do in life passes to offspring
ex. giraffe stretches for branch so their offspring have longer necks
Polymorphic loci
more than 1 allele at frequencies greater than mutation alone
theres 1 gene with several alleles
Heterozygosity
probability that a randomly selected gene will be heterozygous in a randomly selected individual
Hardy-Weinberg equilibrium
null hypothesis used to measure allele frequencies in a population
Hardy-Weinberg’s ways that proportions of genotypes stay the same in a population
no mutation takes place
no genes are transferred to or from other sources
random mating is occurring
the population size is very large
no selection occurs
Mutation mechanism of evolution
rates generally low
other evolutionary processes usually more important in changing allele frequencies
ultimate source of genetic variation
makes evolution possible
ex. types of mutations
Gene flow mechanism of evolution
movement of alleles from 1 population to another
animal physically moves into new population
drifting of gametes or immature stages into an area
mating of individuals from adjacent populations
ex. migration, pollination in different areas, seed dispersal
Nonrandom mating mechanism of evolution
assortative mating
phenotypical similar individuals mate
increase proportion of homozygous individuals
ex. white cat only mates with white cat and black only mates with black
disassortative mating
phenotypically different individuals mate
produces excess of heterozygous
ex. white cat mates with black cat
Genetic drift mechanism of evolution
in small populations, allele frequency may change by chance alone
magnitude of genetic drift is negatively related to population size
entirely random
founder effect
bottleneck effect
Founder effect of genetic drift
smaller population breaks off from large population and only brings certain alleles with them
ex. only red birds travel to an island off mainland
Bottleneck effect in genetic drift
a large population shifts to a small population which causes alleles to be lost
ex. northern elephant seal
Artificial selection
what we do to influence an organism’s genetics
ex. breeding dogs or corn
Natural selection
happens in environment and the the strongest traits survive due to the organism’s conditions
ex. rhino horns being longer
3 conditions for natural selection to occur and result in evolution
variation must exist among individuals in a population
variation among individuals must result in differences in the number of offspring surviving in the next generation
variation must be genetically inherited
Fitness
individual with one phenotype leave more surviving offspring in the next generation than individuals with an alternate phenotype
the most fit phenotype is the one that produces the greatest number of offspring
Components to fitness
survival
sexual selection - some individuals more successful at attracting males
number of offspring per mating
traits favored for one component may be disadvantage for others
Autosomal recessive
usually skips a generation in a pedigree and has “carriers
X-linked recessive
expressed in males more often than females
Autosomal dominant
having any amount of the affected allele causes the phenotype
Interaction
mutations and genetic drift may counter selection
mutations rarely counter selection
drift may decrease an allele favored by selection
Heterozygote advantage
heterozygotes are favored over homozygotes
works to maintain both alleles in the population
ex. sickle cell anemia
Disruptive selection
acts to eliminate intermediate types
takes normal shaped curve and forms two peaks
ex. African black bellied seedcracker finch beaks
Directional selection
acts to eliminate one extreme
often occurs in nature when the environment changes
normal shaped curve shifts right or left
ex. drosophila (flies don’t go towards light)
Stabilizing selection
acts to eliminate both extremes
makes intermediate more common by eliminating extremes
makes the normal shaped curl skinnier
ex. infants birth weight