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This research investigates the genetic regulation of germline mutation rates, particularly focusing on sex-specific effects and genetic variants.

August 2, 2026Science AdvancesOpen Access

A NHEJ1 mutator allele influencing germline mutation rates sex-specifically in humans

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Genome-wide association study identifies NHEJ1 allele affecting germline mutation rates in humans, suggesting evolutionary implications.

This research investigates the genetic regulation of germline mutation rates, particularly focusing on sex-specific effects and genetic variants.
Utilized one of the largest public datasets from parent-offspring whole-genome sequencing (WGS).
Conducted genome-wide association study (GWAS) identifying 14 loci associated with mutation rates.
Analyzed the significant association of a lead SNP in the NHEJ1 gene with increased maternal mutation rates.
Identified a 27% increase in maternal mutation rates linked to the NHEJ1 allele.
Detected a significant shift toward A-to-T mutations in females carrying the NHEJ1 allele.
Confirmed the presence of a similar allele in East Asian populations, suggesting a common evolutionary background.

Wu et al. (2026) studied this question.

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