Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data.

ABSTRACT: The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic region linked to the affected locus, characterized by a number of haplotypes with a locally high proportion of derived alleles, against a background of haplotypes carrying a typical proportion of derived alleles. We searched for this signature in human haplotype data from phase 3 of the 1000 Genomes Project and report a number of candidate mutator loci, several of which are located close to or within genes involved in DNA repair or the DNA damage response. To investigate whether mu

SUBMITTER: Seoighe C 

PROVIDER: S-EPMC5283766 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature