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Autosomes
non sex determining chromosomes
same between genders of a species
44 autosomes (22 pairs) in humans
Sex Chromosomes
species with single gender indiv have 2 chrom ( 1 from each parent) called sex chrom
determine gender
in humans and most of anamalia, known as X and Y
males have XY; females XX
Each parent gives 1 sex chrom to offspring
bc females only have x chrom can only contribute X
males have both so they can contribute X or Y, so it is male’s gamete that deterimes gender
also have genes that don’t determine gender.
Co Dominance
at least 2 alleles of gene are dominant to other, but not to each other
these diff allels same trait are both dominant
When both alleles are co dominant, both pheno will present seperately
each allele produce prtoein seperately- proteins not linked and both are present and can be isolated
Dominant
when 2 alleles for a trait are heterozygous, dominant allele will express its trait.
when different alleles are found in a pair, the dominant one will express its phenotype (capital letter)
Recessive
a recessive allele will only express its phenotype when paired w same allele.
will only express its phenotype in a homozygous pair.
Incomplete dominance
when alleles dfor trait are not recessive nor dominant
neither exhibit complete dominance
homozygoues geno will result in distinct phenos
but heterozygous geno will result in a pheno that is blend of 2 homo phenos
Genotype
actual alleles(genes) for a trait
Phenotype
physical or observable representation expressed by the interaction of alleles(genotype)
Alleles
alternate genes for same trait.
they produce phenotypes of a trait
manner in which they interact determine which traits will be expressed
each org gets 1 allele from parent for each trait
represented by capital letter( dominant) or lowercase letter (recessive.
Pleiotropy
1 allele affects more than 1 trait.
pleiotropic allele may be dominant for one pheno, but recessive for a nother
Law of Independent assortment
inheritance of set of alleles for 1 trait occurs independent of inheriance of another
alleles are specific for 1 trait and will not affect which alleles are inherited for another
Happens in anaphase I where tetrads are pulled into sister chromatids and sister chromatids go to random poles.
Polygenic traits
traits are often determined by more than 1 pair of alleles
means mroe than 1 protein invovled
diff alleles interact influencing/creating pheno
ex. height and skin pigmentation
Law of segregation
traits determined by 2 allels (1 from each p)
even though each parent 2 alleles, only contribute 1 per trait
bc alleles seperate from each other during anaphase II
chromatid seperate, splitting allele for trait into diff gamete
as result each gamete has 1 allele per trait
bc each parent give 1, offspring get 2 alle/trait
2 allele each individual possess segregate during gamete formation (bc meiosis) and are randomly rejoined during fertilization( 1 from each parent)
Sex linked
trait determined by gene on 1 of sex crhom (usually x)
many are recessive
bc men only have 1 x chrom, likely to inherit (therefore express) bc there is not another x chrom that carry dominant overiding allele
female have 2 x chrom, 1 x may have recessive, but other could overide with dom
Criteria of Life
-very difficult to define life
-necessary to use several criteria to determine if an organism is living or not
Integration of unifying theories
Cell theory integrated into genetic theory since cells contain genetic material (DNA and RNA) and utilizes genetic material through synthesis genetic theory is integrated with theory evolution because characteristic in genetics (alleles) varies in genes by the foundation of evolution.
Prokaryotes
-lack a nucleus and membrane bound organelles
-found in domains Bacteria and Archaea-unicellular
-possess ribosomes (for protein synthesis) that are smaller and constructed slightly differently than those of eukaryotes
-DNA is a double helix that floats in the cytoplasm as a single circular chromosome
Eukaryotes
-contain a nucleus (a membrane surrounds cell's DNA) and other membrane bound organelles
-found in domain Eukarya-functions allow eukaryotic cells to function in much more complex manner than prokaryotic cells
Metabolism
-process of obtaining energy from materials found in the environment-energy is used to maintain life processes & to make specific molecules needed to sustain life
Homeostasis
-living organisms have the ability to maintain relatively stable internal conditions, EVEN THOUGH the external environment is much different
Response
-living organisms respond to internal and external stimulus
Growth and Development
-during the lifespan of an organism, it will change in size and/or number of cells (grow) and goes through different stages of development
Adaptation
-all living organisms have mutations that may or may not be beneficial in their environment-if a mutation is beneficial, it increases an organism's chance of survival in that environment-this is adaptation and is a key component of evolution
domain archaea
-only contains prokaryotic cells-lacks a peptidoglycan cell wall (cell wall is constructed of lipids)-has introns in their genes
-utilizes methionine as the initiator amino acid for protein synthesis
-utilizes histones for the storage of DNA & has a single circular chromosome
domain bacteria
-only contains prokaryotic cells
-possess a peptidoglycan cell wall
-utilizes formyl-methionine as its initiator amino acid for protein synthesis
-has no introns in their genes-do not use histones for the organization of DNA & have a single circular chromosome
Taxonomy Levels
-domain, kingdom, phylum, class, order, family, genus, species
Three Different Ways to Define Species
-morphological: defines organisms by their physical appearance or form (morphology), however members of a species exhibit diversity regarding appearance
-ecological: organisms that are similar in appearance to one another may inhabit different niches in an environment, creating differences in their roles in an ecosystem
-phylogenic: the narrowest group of individuals that share a common ancestor, this determination uses several criteria such as morphological, behavioral, and biochemical DNA similarities
Kingdom Fungi
-eukaryotic
-multicellular
-cell wall (chitin)
-heterotrophic
Kingdom Animalia
-eukaryotic
-multicellular
-lack a cell wall
-heterotrophic
Kingdom Plantae
-eukaryotic
-multicellular
-cell wall (cellulose)
-possess chloroplasts
-photoautotrophs
viruses
-obligate parasites that infect every living species
-nonliving (pseudo-organisms)
Living characteristics of viruses
-contain genetic information (Does not contain both DNA and RNA doesnt count)
-Adapt to environment
-Reproduce (not independently)
Non living characteristics
-No cell structure
-No metabolism
-No homeostasis
-viruses dont die but can be destroyed
Three unifying theories of biology
Cell Theory, genetic theory, theory of evolution. These are the foundation of biology. do not act or exist independently, impacting, influencing each other allowing life to exist
Cell theory
A three component theory (Developed 1839-1858). 1. All living organisms are composed of one or more cells.
2. cells are unit structure, function, organization, living organisms.
3. cells arise only from pre-existing cells.
4. Cells contain genetic material (DNA and RNA) that is passed to new generations of cells through cell division
5. all cells essentially same in chemical composition
6. metabolism (transfer of energy bonds of molecules that cells can use, ATP) Biochemistry utilized by living organisms. occur only within cells.
Genetic Theory
Using mathematical analysis offspring pea plants Mendel able to deduce principles explain patterns inheritance. Mendel + Darwin independently recognized: 1. Had to be factors (genes) determined traits/characteristics
2. factors (genes) passed down from parents to offspring
3. factors (genes) vary.
They predicted genes before DNA was isolated and before it was determined traits were carried by DNA condensed chromosomes.
Theory of Evolution
Five component sequential theory that provides scientific mechanism at how life evolved from common ancestor
1. Common descent
b. variation
c. Natural selection/adaptation
d. Survival of the fittest
e. Specitiation
Common descent
all life rose from a single common ancestor that gave rise to first population
Variation
individuals within population differ. variations result of random mutations to DNA
Natural selection/adaptation
Variations more beneficial for specific environment than other variations. Individuals with beneficial variations for specific environment are more likely to survive in environment. Individuals that survive are more likely to reproduce. Very dependent on environment. A beneficial mutation in one environment can be fatal in a different environment.
Survival of the fittest
Species produce far more offspring than are needed to maintain pop. Only those who are the fittest with the most favorable adaptations, lucky to avoid death before reproducing. Survive and reproduce passing their variation to next generation.
Speciation
Over thousands of generations (Often millions of years) adaptations in pop accumulate, as these adaptations accumulate the pop. slowly changes until it becomes a "new" species
Reproduction
-creation of new generation of orgs from existing one
bc orgs have finite lifespan, populations are only to survive by reproduction.
2 types: sexual and asexual
Asexual reproduction
reprodcution w/o sex
creation of genetically identical clone/offspring from parent
usually unicellular orgs, but also seen in multicellular
binary fission
Asexual
seen in proks and unicellular euks
in proks, single chrom is copied and 2 copies go to opposite ends of cell
then cell divides
in unicellular euks, fission of parent cell into 2 daughter cells is result of cytokinesis
so, BF in unicellular euks is result of cell cycle, depending on mitosis for distribution of identical DNA
Budding
- seen in some fungi (yeast) and simple animals (cnidorians and ctenopheres)
-specific cells go through cell cycle and after cytokinesis, they are pinched off of parent organism and develop independantly from parent.
Fragmentation
some simple multicellular can have their bodies broken into many pieces (fragments)
-some, or all, may grow (using cell cycle) into complete orgs
-fragmentation is accompanied by regeneration, regrowth of body parts.
-but regen is not asexual reproduction
-seen in some species of porifera (sponges), jellyfish(cnidarians), and sea squirts (urochordata)
Sexual reproduction
genetic contribution of 2 cells resulting in new org
fusion of 2 haploid(n, containing only 1set of chrom from either mother or father) gametes(male contributes sperm, female contributes egg) creating diploid(2n, 2 sets of chrom; one from mother, other from father) zygote(fertilized egg)
Diploid (2n)
when cell possesses 2 sets of chrom, 1 set from each parent
2 copies of each chrom(1 from each parent); pairs are called homologous chromosomes
these chrom possess genes for same traits(hair color, eye color)
but exact info may differ (blue,brown eye)
humans have 46 chrom (2n=46) or 23 pairs
23 from mom 23 from dad
diff species have diff number of chroms generally
somatic cells always have diploid # of chroms
Haploid
when cell possesses half a compliment(one set) of chroms
only have 1 chrom of homologous pair
cells that are haploids are gametes
2 types of gamets: spermatazoa (male) and oocytes (female)
gametes (n) from 2 parents form zygote (2n) that will develop into multicellular org.
homologous chromosome
in somatic cells (diploid, 2n) chromosomes occur in pairs, 1 from each parent
homologous chrom are not and never were sister chromosomes/chromatids w each other
b4 meiosis, each chrom in homologous replicates and joins w its replicated chrom forming siste rchromatids/chromosome
autosomes
non-gender determining chroms
same between genders of a species
44 autosomes(22 pairs) in humans
sex chromosomes
species that have single gender individuals have 2 chrom (1 from each parent) called sex chrom
determine gender
in humans, and most of kingodm Anamalia, sex chroms are known as X and Y
males have XY;females have XX
each parent gives 1 sex chrom to each offspring
bc females only have X chrom, can only contribute X
males have both so they can contribute X or Y, so it is male’s gamete that determines gender
these chroms also have genes that dont determine gender
somatic cells ( body cells)
any cell within multicellular org except for gametes
contain full complement of chromosomes (are diploid/2n), 1 from each parent
replicate by cell cycle
Gametes
cells used for reproduction
haploid, meaning they possess only 1 set of chrom
transfer genetic info from one gen to next
Meiosis
process where ggenetic info divided among gametes,giving each gamete a haploid # of chrom
similar to mitosis, but diff
2 parts: meiosis I, meiosis II
starts with 1 diploid, ends in 4 genetically diff haploids
Phases of meisois
if an org has 3 pairs of homologous chrom (2n=6_, then each pair has 1 from mom and 1 from dad.
b4 meiosis, cell’s dna replicates
doubles# of chrom
identical chrom then conjoin into sister chromatdis
Prophase I
-chromatin condenses into chromosomes
identical chrom conjoin into sister chromatids
homologous sister chromatids conjoin into tetrads( 4 chromatids)
nuclear membrane disintegrates, centrioles move to opposite ends of the cell.
if 2n=6, 3 tetrads since 6×2/4=3
corresponding chromatids then exchange (cross over)
occurs between nonsister chromatids of tetrad
therefore DNA from parent orgs is mixed, rearranging genetic material on the chromatids
Metaphase I
tetrads line up at equator of cell and spindle fibers attach to the centromere
Anaphase I
spindle fibers contract, pulling tetrads apart
seperate into sister chromatids at seperate poles
pole that sister chromatids are pulled to is random and is reffered to as “independant assortment”
Telophase I
nucklear membrane forms around sister chromatids at each opole
sister chromatids dont unwind
cytokinesis I and telphase I occur simutaneously.
Prophase II-
nuclear membrane disintegrates, spindle fibers form
Metaphase II
sister chromatids move to equator of cell and spindle fibers attach to centromere
ANaphase II
spindle fibers contract, pulling sister chromatids apart, resulting in chromosomes being pulled to opposite ends of the cell
Telophase II
nuclear membrane form around chromsomes at each end and cytokenis II results in 4 haploid cells (gametes) with different DNA
Genetic code
living orgs depend on proteins for strucute, function and as enzymes for chem rxns that sustain life
life is impossible w/o protiens
genes - instruction for construciton of protein- are stored in DNA
genetic code is the codon (RNA)/triplet (DNA) that code for a specific amino acid and is the same for every species
means genetic code is universal
DNA contains segments known as coding and non-coding DNA
Coding DNA
DNA that codes foro construction of various types of RNA (non-protein coding DNA) and proteins (protein coding DNA)
Each segment of protein coding DNA that codes for construction of a specific protein is a gene
Non Coding DNA
DNA that codes for neither RNA nor proteins
Some DNA is ancestral DNA (gene of our ancestors that is no longer used) and remnents of viral DNA that infected either ourselves or our ancestors
Promoter region
Non coding DNA that signals location of a gene
provides a binding site for binding of RNA polymerase and allows initiation of transcription
Introns
sections within genes (Archaea and Eukarya only) dthat do not code for a protein.
seperate the protein-coding sections (exons) of a gene
introns are single or 2 repeating N2 bases
several hypthesis regaurding function/role of intron
Role of N2
genetic code is found on strands of DNA
genetic code is the order that the N2 bases occur
triplets/ codons
genetic code is broken into sequences of 3 N2 bases called a triplet (DNA) or a codon (mRNA)
each codon corresponds to a specific amino acid
since protein is made of amino acods, order of triplets/codons corresponds to order that amino acid occur in a protein
there are 64 codons/triplets (4×4×4) so each amino acid has more than one
there is a start codon/triplet that singlas beginning of instruction and 3 “stop” codons that signal end
Genes
instruction for construction of one protein is called a gene, which contains protein coding segments called exons and non-protein coding segments called introns
on DNA strand, each gene is preceeded by a promoter region
Exons
Protein coding portion of a gene
portion of gene that will be exposed
composed less than 1% of DNA
Exons within gene can be conbined in diff combonations so one gene can code for multiple proteins
introns
Non coding portion of a gene that seperates exons in a gene
may code for RNA
promoter region
non coding region of DNA that preceeds the genes that is the specific site for the binding of RNA polymerase to DNA
region where transcription is intiated
promoter regions usually 50-100 N2 bases long
of same base or 2 repeating bases
signals location of a gene
CCCCCC for Proks
TATATA for Euks
Ribonucleic acid (RNA)
similar to DNA, but 4 major diffs:
RNA uses 5 carbon sugar, Ribose instead of deoxy ribose in DNA
RNA uses urasil instead of thymine for N2 bases
RNA is single stranded (folded or twitsed)
RNA is much shorter
In some specific situations, certain types of RNA act as a catalyst since RNA is a biological molecule, considered to be enzyme even though not a protein
messenger RNA (mRNA/transcript)
template copy of one DNA gene that codes for one protein
mRNA takes this copied info from nucleuos to ribosome where protein is manufactured
Ribosomal RNA (rRNA)
type of RNA that makes up 2 subunits of ribosome
during protein synthesis, 2 subunits (made of rRNA and ribosomal protein)combine to form a ribosome
bc protein synstheiss is a complex chemical rxn and rRNA helps to regulate it, rRNA has enzymic properties and considered an enzyme
Transfer RNA (tRNA)
found in cytoplasm
interperets codons of mRNA and brings the appropriate amino acid to ribosome in order to construct polypeptide/protein
Protein synthesis
orgs can’t exist w/o proteins
proteins have many roles crucial to life-structure, transport, regulation of chem rxns
DNA holds all instructions for consturction of eveyr protein that an org needs to function
each gene is between 150-30,000 codons long
human DNA has 23688 protein producer genes and is too long and large to leave nucleus
therefore info needed for a protein needs to be transferred from DNA to mRNA to take it out of the nucleus to ribisome
2 part process: transcription, translation
transcription
occurs in nucleus and has 3 steps: binding of polymerase, synthesis of mRNA (elongation) and modification of pre mRNA
Binding of polymerase
genes on DNA (sense strand) have a promoter region - sequence of nucleotides of repeating N2 bases (CCCCC or TATATATA) that precedes a gene
-transcription factors (group of proteins) help RNA polymerase II enzyme bind to promoter region
synthesis of mRNA (elongation)
-polymerase II begins to unwind and open DNA starting at PR
Polymerase II untwists and exposes 10-20 DNA N2 bases at a time, allowing complimentary RNA nucleotides to pair
Once mRNA molecules attach to each other, growing strand of mRNA disengages from DNA and the DNA reforms
transcription begins to end after mRNA transcribes 2 termination triplets (TTATTT)
transcription continues 10-30 nucleotides b4 “pre” mRNA molecules disengage from polymerase II
occurs at 60 nucleotides/second
Often, several polymerase II molocules follow one after another on a gene, resulting in production of several mRNA strands, increasing # of proteins synthesized
Modification of pre-mRNA
mRNA must be modified after transcription and b4 it leaves through pores
after transcription, 5’ end (constructed first end) has a modified guanine (guanine cap)added which identifies the end that is to attach to the ribosome
at 3’ end total of 50-250 adenines (poly a tail) added to help prevent degredation
pre m-RNA has introns and exons, snRNP (small nuclear ribonuclear proteins) cut out introns adn w other proteins splice exons together.
creates functional mRNA molecule which exits nucleus through pores in membrane
Translation
using mRNA’s info to synthesize a protein 4 parts: initiation, elongation, translocation, termination
Initiation
5’ end of mRNA binds to small subunit of ribosome
past the guanine cap is the codon that is the start of the sequence - AUG
initiator tRNA (anticodon=UAC, amino acid = methionine) binds to mENA start sequence using H-bonds w its anticodon
major portion of tRNA briefly attaches to longer subunit
tRNA then moved slightly by ribosome
Elongation
next mRNA codon exposed
codon recognized by tRNA molecule w approptiate anticodon
an enzyme briefly attaches this next tRNA to large subunit of ribosome
another enzyme then allows for formation of peptide bond btween 1st and 2nd amino acids
ribosome then slides both amino acids over
1st tRNA seperates from amino acids (a growing polypeptide chain) leaving amino acids attached to 2nd tRNA
translocation
mRNA molecule is moved by ribosome 1 codon over
this exposes next codon
also causes first tRNA to seperate from mRNA
tRNA then returns to cytosol where it attaches to antoher amino acid (same type of amino acid given to the polypeptide)
-elongation and translocation occur concurrently and continouesly until stop codon is reached
Termination
-when stop codon(UAA, UAG, or UGA) is exposed on ribosome, a protein called “realease factor” binds to mRNA, causing polypeptide/protein to be released
2 subunits of ribosome seperate, realeasing mRNA
then polypeptide/protein spontaneously folds and twists, often w help of chaperone protein
new protein may be further modified by enzymes
Mutations
when mutations occur, they changes to DNA that can be inherited
mutations to genes cause an alteration inthe protei that is made from the gene
This may result in completedy or partially malfucntioning protein that canr esult in a genetic disease
or mutations may result in production of a variation of a protein that is not harmful or may benefit an organism (adaptation)
Note -
usually after ribosmes move past star tcodon, another ibosome attaches to mRNA (forming string of ribosomes called polyribosomes) building another polypeptide/protein. this continues mRNA begins to degrade (3 mins) takes less than 1 min to construct avg sized protein
Gene mutations
when specific nucleotide or group of nucleotides are changed or delteed or moved
results in production of wrong protein or no protein at all
generally occur when dna is being replicated b4 meiosis
point (base) mutation
when a single N2 base is impacted
3 types: substitution, insertion, deletion
insertion and deletion are known as framehsift mutations
substitution
when wrong n2 base is copied into gene triplets
results in wrong amino acid being pit n protein and may impact proteins functions
typically impacts one triplet/codon
franeshift mutations
inseertion or deletion of nucleotide (n2 base)
causes nucleotides within gene to shift
changes rest of codons and produces non-functioning polypeptide/protein
impacts many triplets/codons
causes of mutations
3 major causes: replication, carcinogen, radiation
replication
mutation that is result of mistake in replication during s phase
carcinogen
chemicals that can cause nucleotide to be added, deleted, or changed
radiation
very intense energy focused on small point
if radiation hits dna, it can shift, scramble, or delete nucleotides