CastellanoGBE19.pdf (725.53 kB)
Impact of mutation rate and selection at linked sites on DNA variation across the genomes of humans and other homininae
journal contribution
posted on 2023-06-09, 19:19 authored by David Castellano, Adam Eyre-WalkerAdam Eyre-Walker, Kasper MunchDNA diversity varies across the genome of many species. Variation in diversity across a genome might arise from regional variation in the mutation rate, variation in the intensity and mode of natural selection, and regional variation in the recombination rate. We show that both non-coding and non-synonymous diversity are positively correlated to a measure of the mutation rate and the recombination rate and negatively correlated to the density of conserved sequences in 50KB windows across the genomes of humans and non-human homininae. Interestingly, we find that while non-coding diversity is equally affected by these three genomic variables, non-synonymous diversity is mostly dominated by the density of conserved sequences. The positive correlation between diversity and our measure of the mutation rate seems to be largely a direct consequence of regions with higher mutation rates having more diversity. However, the positive correlation with recombination rate and the negative correlation with the density of conserved sequences suggests that selection at linked sites also affect levels of diversity. This is supported by the observation that the ratio of the number of non-synonymous to non-coding polymorphisms is negatively correlated to a measure of the effective population size across the genome. We show these patterns persist even when we restrict our analysis to GC-conservative mutations, demonstrating that the patterns are not driven by GC biased gene conversion. In conclusion, our comparative analyses describe how recombination rate, gene density, and mutation rate interact to produce the patterns of DNA diversity that we observe along the hominine genomes.
History
Publication status
- Published
File Version
- Accepted version
Journal
Genome Biology and EvolutionISSN
1759-6653Publisher
Oxford University PressExternal DOI
Department affiliated with
- Evolution, Behaviour and Environment Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2019-10-11First Open Access (FOA) Date
2019-10-11First Compliant Deposit (FCD) Date
2019-10-11Usage metrics
Categories
No categories selectedKeywords
Licence
Exports
RefWorks
BibTeX
Ref. manager
Endnote
DataCite
NLM
DC