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Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination.


ABSTRACT: Although present in both humans and chimpanzees, recombination hotspots, at which meiotic crossover events cluster, differ markedly in their genomic location between the species. We report that a 13-base pair sequence motif previously associated with the activity of 40% of human hotspots does not function in chimpanzees and is being removed by self-destructive drive in the human lineage. Multiple lines of evidence suggest that the rapidly evolving zinc-finger protein PRDM9 binds to this motif and that sequence changes in the protein may be responsible for hotspot differences between species. The involvement of PRDM9, which causes histone H3 lysine 4 trimethylation, implies that there is a common mechanism for recombination hotspots in eukaryotes but raises questions about what forces have driven such rapid change.

SUBMITTER: Myers S 

PROVIDER: S-EPMC3828505 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature

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Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination.

Myers Simon S   Bowden Rory R   Tumian Afidalina A   Bontrop Ronald E RE   Freeman Colin C   MacFie Tammie S TS   McVean Gil G   Donnelly Peter P  

Science (New York, N.Y.) 20091231 5967


Although present in both humans and chimpanzees, recombination hotspots, at which meiotic crossover events cluster, differ markedly in their genomic location between the species. We report that a 13-base pair sequence motif previously associated with the activity of 40% of human hotspots does not function in chimpanzees and is being removed by self-destructive drive in the human lineage. Multiple lines of evidence suggest that the rapidly evolving zinc-finger protein PRDM9 binds to this motif an  ...[more]

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