The impact of recombination on human mutation load and disease

• Published in: Philosophical transactions of the Royal Society of London. Series B. Biological sciences Vol. 372; no. 1736; p. 20160465
• Main Authors: Alves, Isabel, Houle, Armande Ang, Hussin, Julie G., Awadalla, Philip
• Format: Journal Article
• Language: English
• Published: England The Royal Society 19.12.2017; The Royal Society Publishing
• Subjects: Aberration; Abnormalities; Biological evolution; Cancer; Cell division; Communicable Diseases - genetics; Congenital defects; Disease; Disjunction; Double-strand break repair; Evolution; Evolution, Molecular; Fertility; Gene Conversion; Genetic Linkage; Genetic recombination; Genetics; Genomes; Histone-Lysine N-Methyltransferase - genetics; Human performance; Humans; Infertility; Integrity; Meiosis; Molecular modelling; Mutation; Mutation Load; Prdm9; Purging; Recombination; Recombination, Genetic; Repair; Review; Tissues; cancer; PRDM9; disease; recombination; gene conversion; mutation load

Recombination promotes genomic integrity among cells and tissues through double-strand break repair, and is critical for gamete formation and fertility through a strict regulation of the molecular mechanisms associated with proper chromosomal disjunction. In humans, congenital defects and recurrent...