mutations Flashcards
define mutations
changes in genetic make up
two types of mutations
point mutations and chromosomal mutations
four types of point mutations
silent mutations, missense mutation, nonsense mutation, and frameshift mutations
define silent mutation
do not alter protien or change amino acid
define missense mutation and 3 effects
mutation resultsin different amino acid in protein.
- neutral mutation (no effcet)
-negative mutation (change amino and altersl
-postive mutation(enhances protein)
define nonsense mutation
creates stop codon on mrna(stopping translation)
define frameshift mutation
add extra addition of nucleiotides or loss changing next codon list which changes all amino acids
define chromosomal mutations
changes in chromosomal structure or number
describe chromosomal mutations
starts Af= ABCD. Am= abcd
can turn to abBCcd=duplication
AD= deletion
can be Bf= EFGH and go to EFGHBC= translocation
can turn ACBD=inversion(which is no longer regulated=tumor)
define evolution
change in allelic frequency of a population overtime
darwing 5 observations when studying nature
- more indivi born in pop than will survive to reproduce
- most pop stay relatively constant in size overtime(1 +2 struggle for existence)
- indivi in pop vary by many heritable traits
4.some trait varients allow their possesers to be more successful at surviving + reproducing (3+4 differential reproductive success) - these trait varients will become more common in future generations (logical conclusion)
define evolution by natural selection
change in allelic frequency of a pop overtime due to differtial reproductive success w/i pop that is based on heritable variation
what does natural selection require
differential reproductive success and variation
where did variation come from(2 things)
mutations(point+chromosomal) sexual reproduction (crossing over+independent assortment)
define fittness
contribution to the genetic make up of future pop(ex: quanity of offspring, quality of offspring)(fittness shorthand)
4 modes of natural selection
stablizing selection, directional selection, disruptive selection, balancing selection
define stabilizing selection
NS acts to resist a change of allelic frequencies because mean phenotype is most fit. (no evo) (graph: y axis F, x axis R hump curve that gets taller bc middle best)
define directional selection
NS acts to move mean phenotype towards one extreme of the range bc that extreme is most fit.(change in enviroment) (graph: same hump but moves to one side instead of up)
define didtruptive selection
NS acts to create two or more genetically different forms in the pop bc mean phenotype is least fit(salmon ex)(graph: same hump but now it splits to both sides forming at least two humps)
define balancing selection
NS acts to maintain genetic diversity in pop by farming heterozygotes or rare phenotypes(scale-eating fish)
4 mechanisms for evolution other than NS
mutations, gene flow, genetic drift, and non random mating
define gene flow
movement of alleles into or out of a pop(immigration wolves)
define gentic drift
loss in genetic variation due to random events that prevent some individuals in pop from reproducing
2 phenomenon of genetic drift
gentic bottle neck and founders effect
define gentic bottle neck (gentic drift)
large catastrophic event wipes out a lot of genetic variation, surving pop has small subset of genetic variation of the original pop (elephant seal)
define founders effect (gentic drift)
small subset of pop immigrates and forms new pop which is genetically different than previous pop
non random mating 2 phenomenon
inbreeding depression and sexual selection
define inbreeding depression (non random mating)
forced inbreeding due to small pop, social structure, limited dispersion leads to inbreedin depression which is enhanced expression of negative reccesive allele in pop due to inbreeding
define sexual selection (non random mating)
NS that effects the sexes differently due to the differences in reproductive potentials of males and females.
how is reproductive potentials determine in females
nunber of eggs she can produce(limited)
how is reproductive potentials determine in males
number of femalese they can mate with
what traits will NS favor?
ones that enhance the quality and/or quantity of offspring
what is a female trait that enhances quantity
SIZE. ex fish
what is a female trait that enhances quality
mate choice(choose high quality male so good offspring)
what is a male trait that enhances quantity and quality
being competitive and getting all the ladies and being attractive
define sexual dimorphism
occurance of non-gonadol differences btwn males and females
3 versions of sexual dimorphism
- female larger than male(more big=more eggs)
- males are larger/have weapons(male/male competition)
- males exhibit elaborate secondary sexual characteristics (females choose mate)
define handicap hypothesis
ela sec sex chara serves as a reliable indicator of the quality of the males genes. NS favors females that prefer bright bold traits
define sensory exploitation hypothesis
ela sec sex chara envolves bc they take advantage of an innate preference that is related to some non-reprodictive context (looks like food)
define speciation
evolution of 1 or more species from a parent species
what is a species?
a group of actually or potentially enter breeding populations that are reproductively isolated from other such groups
2 steps of speciation?
extrinsic isolation and intrinsic isolation
define extrinsic isolation
something happens to stop gene flow btwn 2 pop of same species
define intrinsic isolation
overtime 2 isolated pops evolve differently to point that they could no longer interbreed should the extrinsic barrier break down
2 intrinsic isolating mechanisms
prezygote mechanisms and postzygote mechanisms
5 types of prezygote mechanisms (prevent inter species repro) (intrinsic)
mechanical-physical differences in repro structures(grasshopper)
temporal-diff in timing(eel)
habitat-diff in repro habitat(salmon)
behavioral-diff in repro behavior(firefly)
gametic-changes in surface protiens on egg + sperm (sea urchin)
2 ways of postzygote mechanisms(fertilization goes through but nothing comes out of it) (intrinsic)
1- embryo does not develop
2- offspring is sterile
2 types of extrinsic isolation
allopatrics speciation and synpatric speciation
define allopatrics speciation (extrinsic)
some physical barrier that seperates the pops and blocks gene flow
2 types pf allopatrics speciation
- Vicariance-physical barrier “arises” (geological)
- dispersal to unoccupied habitats
define synpatric speciation(extrinsic)
gene flow halted btwn two segments of the same population
2 types of synpatric speciation
- dissruptive selection- some insects feed+breed on only one species of plant
- polyploidy
define systemics
study of evolutionary relationships of organisms
3 tools of systemitists
- fossil records
- vestigial structures
- homologies
define vestigials structures
reduced nonfunctional structures left over from a functional ancestral state
define homologies
shared traits that point to common ancestry
three types of homologies
structural, developmental and genetic
define structural homologies
adult structures problem is convergent evolution- evolution of similar traits in distantly related but ecologically similar species
define developmental homologies
during embryo things like tail and hollow spine and shit like that
define genetic homologies
A) similarities in highly conserved genes (small genes v important shared by everyone)
B) similarities in noncoding sections of DNA
C) psuedo genes(ex:snake has leg gene but not expressed)
3 processes for biotechnology of Herman wonder bull
1) isolate HLF(humin lactofarin) gene
2)clone gene
3) stick in cow
describe isolating the gene
1)get donated tissue that expresses gene. 2) digest tissue w/ lipeaces and proteaces. suspend in ethanol bc nucleic acids not soluble in it. centrifuge, collect pellet, remove ethanol +h2o and suspend. have water tube of dna, rna, mrna, trna, rrna. want mrna. get poly T column pour tube into it so poly A tail(mrna) attaches to poly T tube. flush with weak acid to detach. just HLF mrna gene left. add DNA nucleiotides and reverses transcriptace so now HLF gene (CDNA)
describe cloning the gene
2 tools from bacteria. 1) plasmids- small not essential extra loops of DNA in cytoplasm- contains genes, gets replicated w/ cell division. 2)rescrition endo nucleace- identify +destroy forgien dna-> binds to very specific nucleiotide sequence and cuts dna at that point.
EcoR1- sequence GAATTC
CTTAAG gets cut btwn A+G. take HLF –+ EcoR1 linker + DNA ligeace>
GAATTC ——– CTTAAG
HLF
CTTAAG ——– GAATTC
cut btwn A+G and drop what cut off. purchase plasmids and add ECOR1 sequence to it. next want to put in bact but it will destroy via restrictive endo nucleace so use RE deficient culture to take plasmid by either cold wash of CaCl2 or do electroportation. to check if culture took plasmid pour on ager plate that has ampecilin so ones w/o plasmids die bc so AMP site. last freate CDNA library(freeze) from living culture colonies so no need to ever clone again.
describe sticking it in cow
take culture and digest w/ proteace and lipeace. suspend in ethanol, centrifuge, collect pellet, suspend in water. have tube of h2o, bacterial DNA, and plasmid. add tag1 so gene cut from plasmid w/ promoter site. now you hace tube of bacterial DNA, plasmid, +HLF gene. next gel electrophoreaces with ager gel by pouring tube into gel and since gene(-) and bottom of electro is postive it goes down when electricity added. cut out of gel so its now isolated cloned HLF gene. microinject p-site and HLF directly into nucleus