Article
Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line.
Science (New York, N.Y.) - 1 Dec 2023
Hinch Robert, Donnelly Peter, Hinch Anjali Gupta
Abstract excerpt
Meiotic recombination commences with hundreds of programmed DNA breaks; however, the degree to which they are accurately repaired remains poorly understood. We report that meiotic break repair is eightfold more mutagenic for single-base substitutions than was previously understood, leading to de novo mutation in one in four sperm and one in 12 eggs. Its impact on indels and structural variants is even higher,...
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