Meiotic Recombination in the Human Germ Line

International audienceHomologous recombination (HR) is the exchange of genetic information between similar deoxyribonucleic acid (DNA) molecules. In mammalian meiosis, HR is essential for correct chromosome segregation during gamete formation. Errors of HR lead to aneuploidy, formation of gametes with incorrect number of chromosomes and genetic disorders. Understanding the mechanisms of recombination is important for identifying disease-associated genomic regions and for the study of human genome evolution. With the development of new whole-genome technologies, knowledge of meiotic recombination in germ cells have advanced significantly. The recent discovery of the role of the PR domain containing 9 (PRDM9) protein in the recombination process opens new perspectives in HR research. In this review, I describe the basics of HR; introduce the pedigree, sperm typing and chromatin immunoprecipitation Sequencing (ChIP-seq) approaches that are currently used to study recombination in human germ cells and summarize the properties of recombination “hotspots”, discovered as a result of the understanding of the process involved in double-strand break (DSB) formation. Finally, I discuss the implications of the recombination events for genetic disorders in humans