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

• DOI: 10.7554/elife.89096.2
• Publication Date: 2024-01-10T15:27:23Z
• Authors: Thomas A. Sasani; Aaron R. Quinlan; Kelley Harris
• Keywords: Epistasis

Maintaining germline genome integrity is essential and enormously complex. Although many proteins are involved in DNA replication, proofreading, repair [1], mutator alleles have largely eluded detection mammals.DNA replication often recognize sequence motifs or excise lesions at specific nucleotides. Thus, we might expect that the spectrum of de novo mutations — frequencies C>T, A>G, etc. will differ between genomes harbor either a wild-type allele. Previously, used quantitative trait locus mapping to discover candidate gene Mutyh increased C>A mutation rate family inbred mice known as BXDs [2,3].In this study developed new method detect associated with variation applied it data from BXDs. We discovered an additional on chromosome 6 overlaps Ogg1 , glycosylase same base-excision network [4]. Its effect depended presence allele near both loci had greater numbers than those alone. Our methods for analyzing spectra reveal evidence epistasis may be applicable humans other model organisms.