Mapping Recombination in Individual Human Males

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Sci. Signal.  18 Nov 2014:
Vol. 7, Issue 352, pp. ec324
DOI: 10.1126/scisignal.aaa2975

Sperm and eggs form from diploid cells that contain two copies of our genomic DNA. The haploid germ cells must undergo a special cell division, meiosis, which halves their DNA content. Meiosis involves a DNA recombination step between parental chromosomes. Recombination is initiated by a DNA double-strand break, which can exchange DNA between the chromosomes, a process that drives human genetic variation. Pratto et al. mapped meiotic recombination sites in individual human males (see the Perspective by de Massy). Recombination hotspots were influenced by variants of the histone-lysine N-methyltransferase protein, PRDM9, as well as by other factors. The recombination sites also influence genome evolution and the incidence of genetic disease.

F. Pratto, K. Brick, P. Khil, F. Smagulova, G. V. Petukhova, R. D. Camerini-Otero, Recombination initiation maps of individual human genomes. Science 346, 1256442 (2014). [Abstract] [Full Text]

B. de Massy, Hidden features of human hotspots. Science 346, 808–809 (2014). [Abstract] [Full Text]