The impact of genetic modifiers on variation in germline mutation rates within and among human populations

• Published in: Genetics (Austin) Vol. 221; no. 4
• Main Authors: Milligan, William R, Amster, Guy, Sella, Guy
• Format: Journal Article
• Language: English
• Published: United States Oxford University Press 30.07.2022; Genetics Society of America
• Subjects: Demographics; Demography; Evolution; Evolution, Molecular; Genetic diversity; Genetic Drift; Genetic Variation; Genetics; Genomes; Germ-Line Mutation; Human populations; Humans; Investigation; Models, Genetic; Mutation; Mutation Rate; Mutation rates; Population number; Populations; Selection, Genetic; population genetics; mutation spectra; human evolution; mutators; germline mutations; mutation rate; modifiers; pedigree studies

Abstract Mutation rates and spectra differ among human populations. Here, we examine whether this variation could be explained by evolution at mutation modifiers. To this end, we consider genetic modifier sites at which mutations, “mutator alleles,” increase genome-wide mutation rates and model thei...