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99 Cards in this Set

  • Front
  • Back

In Eukaryotes, the transcribed sequence of a gene consists of coding regions called ______, which in most genes are separated by noncoding regions called ________

1. Exons


2. Introns

What is the genetic code?

a triplet of bases (a codon) specifies a particular amino acid in the growing polypeptide chain

Define Point Mutation

single base pair substitutions


* coding region

Define Transitions Mutation

a substitution of a purine for a purine (A<-->G) or a pyrimidine for a purine

Define Transversions Mutation

of eight possible kinds, are substitutions of purines for pyrimidines

Define Synonymous Mutations
a point mutations that does not change amino acid sequence


Define Nonsynonymous mutation





result in amino acid substitutions, have little or no effect on the functional properties of the polypeptide or protein and no effect on the phenotype. May have substantial consequences.

Define Frameshift Mutations (insertion and deletion)

1 more bp being inserted or removed from an amino acid sequence

Define Discrete trait and Continuous Trait

1. Discrete Trait: which can only take a finite number of values (usually integer), such as how many members in your family



2. Continuous Trait: which, IN PRINCIPLE, can take any value. In practice, the measuring instrument and recording will often result in the continuous trait being converted to a discrete one

Gregor Mendel (1822-1884)

- Born in Austria


- Had love for nature


-experimented with several plants including peas.


-interested in process of hybridization

What did Mendel conclude?

- Inheritance is not "blended", are controlled by genes


-made Law of Segregation


- Dominant (dominant one is always expressed)and recessive, genes and alleles (2 alleles, only 1 is passed)

Mendel's Law of Independent Assortment

- each pair of allele segregates independently

Define Mendelians





* Population Genetics

traits evolve with large mutational jumps

Define Biometricians




* Population Genetics

evolution by gradual change in continuous traits

IBD

identity by descent

Algorithm of Natural Selection

- More individuals produced that can survive and reproduce


-Inheritance

Define Variation



* Upload chart from lecture

Variation in survival and reproduction


- Evolution is the combination of random (variation) and non random (sorting in the variance mutation)

Define Blending Inheritance

* offspring= mean of parents


- in next generation, the most abundant trait will fall right in the middle between the large and small


- if you get a favorite variation, under selection it will go under the original

First Hypothesis



* put picture from slides

In the f2 you get the same ratio aka the 3:1 ratio

Second Hypothesis



*put picture from slides

The traits are seperated

Inversion Mutation

the connection between genes break and the sequence of these gees are reveresed

Duplication Mutation

a chromosome is duplicated or replicated, resulting of multiple copies of that region

Define Translocation

when chromosomes rearrange

The 6 conditions for Hardy Weinberg Equilibrium

1. Sexual Reproduction


2. Random Mating


3. Non-overlapping Generation


4. No mutation


5. No migration


6. No Genetic Drift

What is Allele Frequency? What is Genotype frequency?

1. Allele Frequency: the frequency of an allele relative to that of other alleles in the same gene in a population


2. Genotype Frequency: is how often a gene or chromosome determines a specific characteristic or trait that shows up in a group

Allele Frequency example

Find A ex) PA=0.4


Find a ex) Pa=0.6


Genotype Frequency example

PAA= p^2


PAa= 2pq


Paa=q^2

What does F mean in the HWE?

It is the proportion of inbreeding


- the probability of IBD


- 0<-F<-1


Inbreeding coefficient

Expected/Observed equation under HWE

Obs: 2pq(1-F)=Hobserved

Imbreeding Depression

reduction in fitness, mutation may occur such as deleterious recessive alleles

Wright Fisher Model

the random sampling of AA and Aa


- losing little a, making it have an allele frequency of (p:1 to q:0 from original p:0.5 and q: 0.5)

smaller populations and Genetic Drift
smaller populations lead to faster genetic drift.....faster fixcation in the alleles

Loss of alleles in Gene Drift

if you have small population of drift

The probability of fixation

starting allele frequency

How is Effective population size abbreviated?

Ne

FSI and FST

1. FIS: is individuals and subpopulation


2. FST: is subpopulation and total

What happens to allele size if you have imbreeding?

You will have an excessive amount of alleles

What happens to drift if you have a large population size?

much slower drift

What happens to drift if you have a small population size?

much dramatic and faster drift

Why did Darwin write so much in Origin of Species?

1. It provides an analogy for natural election


2. direct evidence of natural selection


Neutral Theory holds that most allele fixation events are the result of:

genetic drift

_______ typically reduces genetic variation, while ______ maintains it.

1. Genetic Drift


2. heterozygote advantage

At equilibrium in an island model, Fst at neutral loci:

depends only on Nm, the product of population size and migration rate


Which of the following can be used to detect selection from molecular data?

1. proportion of admixture across loci


2. ratio of synonymous to non-synonymous substitutions


3. extent of linkage disequlibrium around loci


4. relative values of Fst across loci

______ typically increases LD around a locus, and ______reduces it

1. selective sweep


2. recombination

Define Effective Population Size
Effective # of individuals contributing to next generation
Define Frequency Dependent selection
natural selection in which Fitness of a trait varies as a function of the frequency of that trait in the population
Define Sexual selection
differential reproductive success as a result of a variation in the ability to successfully mate
How does hidden population structure lead Fis>0?

*Short answer
With hidden population structure, mating is more likely within subpopulations than between. If allele frequencies differ among subpopulations, this non-random mating will produce an excess of homozygotes relative to the overall expectation, leading to Fis>0
Why is the substitution rate of neutral mutations equal to the mutation rate, independent of population size?


*short answer
1. New mutation rates each generation is: 2Nemu
2. The probability of any of these mutations reaching fixation by drift is its starting allele frequency: 1/2Ne
3. Rate of substitution: mu

*If you times them by eachother, only mu will be left
In some mice, individuals with genotype tt do not survive yet heterozygotes (Tt) exhibit segregation distortion so that most of their gametes carry that t allele. Use the concept of levels of selection to explain how this maintains both the T and t alleles in the population

*short answer
Segregation distortion in heterozygotes produces selection for t at the genocide level. The conflict between these two levels f selection leads to a balanced polymorphism at this locus
What was the first type of molecular data?
allozyme aviation ➡ protein alleles
if you look at any gene....
they found lots of genetic variation
What is non selection forces? (neutral forces)
1. mutation
2. drift
Natural Selection
predicts low level of genetic drift
what did Lewiston discover?
Allozyme variation into he 1970s
Substitution
New mutation reaches fixation
Probability of fixation = initial frequency
if it is a new mutation, frequency is 1/2N
what is mutation rate number?
10 ^-9 is rate of nucleotides sequence
2Np*1/2N = mutation rate
at population level, 2NP
-what's probability of it reaching fixation is 1/2N
-substitution rate is equal to mutation rate (under neutral Theory, you would expect the molecular clock)
what is the mutations rate equations and what does it mean?
2NP = # of new mutations per generation
1/2N= probability that one will fixate
Molecular Clock
*Substitution rate = mutation rate
rate of change constant
- amount of change is same over stretch of time
Neutral theory
most evolution of molecular/genetic level is the result of neutral forces. ex. genetic drifts and mutation
is allele fixation events the result of genetic drift?
yes
Neutral theory holds that most allele fixation events are the result of:
generic drift
______ and_ ________ are 2 types of selection that maintain genetic diversity?
1. Negative frequency
2. heterozygous advantage
At equilibrium in an island model, Fst at neutral loci:
depends only on nm, the product of population size and migration rate
Hardy-weinberg equilibrium:
is reached in just one generation of random mating
define Coalescent theory?
1. lineage of alleles backward in time
2. relates population size to the timing of coalescence
3. is based on a Wright- Fisher model
According to Gregory Mendel, the 3:1 ratio of phenotypes in an F2 cross?
1. demonstrates the principle of segregation of alleles
2. fits a model of dominant and recessive alleles
Darwin's finches experience temporal fluctuations in selection, meaning that
1. phenotypic diversity remained over time
2. sometimes larger beaks are more fit, sometimes smaller beaks are more fit
A new mutation has ______ than the existing allele. it _______ in the population in a process known as a selective sweep
1. higher. fitness
2. increases
In white throated sparrows, white striped females mate with tan striped males., and tab striped females with white striped males is known as
disassortative mating
Substitution rates of synonymous (silent) mutations are often highly correlated with time. This is predicted by Neutral theory because:
1. synonymous mutations are neutral
2. Motoo Kimura said so
Effective population size definition?
is the effective # of individuals that contribute to the next generation
Indel definition?
a mutation that involves deletion or insertion of one or more nucleotides in a sequence
Hidden population structure definition?
when mating more likely to occur in subpopulations than between subpopulations

ex) mice on either side of barn w/cat in middle of barn preventing migration
SNP definition
-Single Nucleotide Polymorphism
-occurs when. one nucleotide is substituted with another
Inbreeding definition
individuals of a population that are closely related mate with each otger, which can be measured by an F value (positive F value correlates to inbreeding; higher f value =more inbreeding)
Balancing selection definition
a form of natural selection that maintains stable frequencies of 2 or more phenotypic forms of a population.
Directional selection
form of natural selection in which the entire curve moves
-occurs when individuals in one end of a distribution curve have a higher fitness than individuals in the middle or at the other end of the curve
Stabilizing selection
a form of natural selection that favors intermediate variants by acting against extreme phenotypes
disruptive selection
a single curve splits into 2
-occurs when individuals at the upper and lower end of a distribution curve have higher fitness than individuals near the middle
selective sweep
act to reduce levels of linked silent polymorphism
-generates positive levels of neutral polymorphism and levels of recombination
Linkage Dependent
tendency for certain alleles at 2 linked loci to occur together more often than expected by chance
E. coli selected to grow at 40 degrees show reduction growth rate at 37 degrees. this is result of what?
antagonistic pleiotropy
Define Fitness
the lifetime reproductive success of a biological entity (allele, individual, etc)
ability to survive and reproduce
Is evolution by natural selection a random process? non-random? both? explain?
Both: the production of variation by mutation is random, but the selection of variants on the basis of differential fitness is non-random
Why are p2, 2pq and q2 the expected genotype frequencies under Hardy Weinberg Equilibrium?
Under HWE assumptions, genotype frequencies are produced by randomly sampling two alleles to form each diploid individual. The probability of randomly picking two A alleles is p x p=p2 (same for q2). For heterozygotes: pick A and a (probability p x q=pq) and it's sum 2pq
You conduct a chi-square test for Hardy Weinberg Equilibrium and find that p<0.001. what does this mean?
The genotype frequencies deviate significantly from HWE and one or more assumptions of HWE is violated
Further, you estimate Fis: 0.35, What are 2 possible explanations for this result?
1. Inbreeding
2. assortative mating
3. hidden population structure
4. natural selection
B
If a neutral allele A is at a frequency of p=0.3, what is the probability that it will eventually fix by genetic drift?
0.3
If a selectively advantageous allele B is at a frequency of p=0.01, is it more likely to reach fixation in a small population or large population?
Large population (bc selection overcomes drift better in a large population)
1. Fst =0.0
(mostly homozygous with some heterozygotes)
2. Fst=0.7
(top is homozygous recessive and bottom is homozygous dominant, minus the 3 That are heterozygotes)
3. Fst=1
(one circle s homozygous dominant and bottoms circle is homozygous recessive)
Blending Inheritance:
was used as a counterargument to Darwinism natural selection
If a selectively advantageous allele R is at a frequency of p=0.01, is it more likely to reach fixation in a small population or a large population? why?
more likely to reach fixation in a large population because selection is more effective in large populations than drift is.