Research Article

A Fine-Scale Chimpanzee Genetic Map from Population Sequencing

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Science  15 Mar 2012:
DOI: 10.1126/science.1216872

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To study the evolution of recombination rates in apes, we developed methodology to construct a fine-scale genetic map from high throughput sequence data from 10 Western Chimpanzees, Pan troglodytes verus. Compared to the human genetic map, broad-scale recombination rates tend to be conserved, but with exceptions, particularly in regions of chromosomal rearrangements and around the site of ancestral fusion in human chromosome 2. At fine-scales, chimpanzee recombination is dominated by hotspots, which show no overlap with humans even though rates are similarly elevated around CpG islands and decreased within genes. The hotspot-specifying protein PRDM9 shows extensive variation among Western Chimpanzees, and there is little evidence that any sequence motifs are enriched in hotspots. The contrasting locations of hotspots provide a natural experiment, which demonstrates the impact of recombination on base composition.

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