Epistasis between mutator alleles contributes to germline mutation spectra variability in laboratory mice.

ABSTRACT: Maintaining germline genome integrity is essential and enormously complex. Although many proteins are involved in DNA replication, proofreading, and repair [1], mutator alleles have largely eluded detection in mammals. DNA replication and repair proteins often recognize sequence motifs or excise lesions at specific nucleotides. Thus, we might expect that the spectrum of de novo mutations - the frequencies of C>T, A>G, etc. - will differ between genomes that harbor either a mutator or wild-type allele. Previously, we used quantitative trait locus mapping to discover candidate mutator alleles in the DNA repair gene Mutyh that increased the C>A germline mutation rate in a family of inbred mice known as the BXDs [2,3]. In this study we developed a new method to detect alle

SUBMITTER: Sasani TA 

PROVIDER: S-EPMC10168256 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature