Genetic evolution Flashcards
What is polymorphic?
A population with more than one allele at a locus
What is monomorphic?
A population with only one allele at a locus, allele is fixed.
What is C-value
the amount of DNA in a haploid genome
What is the C-value paradox?
- genome size does not correlate with size/complexity of organism
- e.g. similar species can have very different genome sizes, implying the correlation between genome size and complexity is weak
Does the number of genes correlate with genome size?
No.
- number of genes roughly correlate with complexity of organism, but have no link with genome size
Does amount of non-coding DNA correlate with genome size?
Yes.
- The more non-coding DNA there is, the bigger the genome
- especially prominent in eukaryotes
- called ‘junk DNA’
State the procceses the changes genome size
- Gene duplication and loss (in genic region)
- Selfish DNA (in nongenic region)
What are selfish genetic elements (SGEs)?
- Genetic segments that have no obvious function but replicate
- enhanced transmission relative to the rest of the genome
- Can be detrimental or neutral to the organism
- Can be chromosomes, genes, haplotypes etc
what cause the enhanced transmission of SGEs?
- Gonotaxis: orientating towards germline cells
- interference: scuppering the competition (rother genes)
- Over-reolication: replicating more than once during cell cycle
SGEs fix rapidly unless opposed by evolutionary forces
What are the effects of selfish DNA on the host?
Increase genome size because over-replication
- No function so not selected against
- those with function often deleterious to host, so selected against
- Rarely beneficial to host
What is the neutral thoery of molecular evolution?
- Majority of genetic variants in most populations are selectively neutral (not under selective pressure)
- Most gene variants confer neither advantage nor disadvantage
- Neutral varaints must accumulate via genetic drift
What gave rise to the neutral theory of molecular evolution?
- Most populations habour more genetic variation than would be expected if natural selection was the only influence
- Many mutations don’t alter function of protein
How can molecular mutations be neutral?
- Many nucleotide substitutions have 0 effect on phenotype because most amino acids specified by more than one codon
- synonyous substituitons: changed nucleotide, same amino acid. Therefore no affect on protein function (may change mRNA stability, translation rates etc.)
- Less likely influenced by natural selection therefore neutral
What nonsynonymous substitutions?
- Missense sub: change amino acid
- Nonsense sub: mutation encodes stop codon
What are the effects of nonsynonymous substitutions?
- Likely deleterious because change in amino acid seqeunce likely to change protein structure
- Some neutral because sometimes amino acid repliacement does not alter protein’s shape
- Some advantageous, enhance protein function
Why do synonymous subs accumulate at much higher rate in protein coding genes than nonsynonymous subs?
because most nonsynonymous subs are harmful therefore quickly removed form the population
What are pseudogenes?
- copies of genes that are no longer functional
- not subject to strong selection so have much higher rate of substitution
Why is the fixation rate of new neutral mutation independent of population size?
- population size = N
- neutral mutation rate = µ
- number of new mutations = µ2N (2N copies of genes able to mutate in a population of N individual
- probability of fixation of a new mutation by drift = 1/2N (probability of fixation equals its initial frequency)
- Rate of fixation of neutral mutations (m) = µ2N x 1/2N = µ
- Therefore m = µ (the number of new neutral mutations that will fixate via drift depends solely on mutation rate)
- Rate of fixation depend on probablity of fixation, which depend on population size –> bigger population = smaller chance for a mutation to fixate
- but fixation rate also depend on the number of new mutations that have arisen, which depend on population size –> bigger population = more mutations
- Two factors cancel out