Linked Mutations at Adjacent Nucleotides Have Shaped Human Population Differentiation and Protein Evolution.

ABSTRACT: Despite the fundamental importance of single nucleotide polymorphisms (SNPs) to human evolution, there are still large gaps in our understanding of the forces that shape their distribution across the genome. SNPs have been shown to not be distributed evenly, with directly adjacent SNPs found unusually frequently. Why this is the case is unclear. We illustrate how neighboring SNPs that cannot be explained by a single mutation event (that we term here sequential dinucleotide mutations [SDMs]) are driven by distinct processes to SNPs and multinucleotide polymorphisms (MNPs). By studying variation across populations, including a novel cohort of 1,358 Scottish genomes, we show that, SDMs are over twice as common as MNPs and like SNPs display distinct mutational spectra across populations. These

SUBMITTER: Prendergast JGD 

PROVIDER: S-EPMC6424222 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature