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PMID: 22422862 Published · ppublish English Comparative Study Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

A fine-scale chimpanzee genetic map from population sequencing.

Science (New York, N.Y.) ·Vol. 336 ·No. 6078 ·2012-04-13 ·Pages 193-8

Auton A, Fledel-Alon A, Pfeifer S, Venn O, Ségurel L, Street T, Leffler EM, Bowden R, Aneas I, Broxholme J, Humburg P, Iqbal Z, Lunter G, Maller J, Hernandez RD, Melton C, Venkat A, Nobrega MA, Bontrop R, Myers S, Donnelly P, Przeworski M, McVean G

Abstract

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 those of 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.

MeSH Terms
Animals Base Sequence Chromosome Mapping Chromosomes, Human, Pair 2/genetics Chromosomes, Mammalian/genetics CpG Islands Evolution, Molecular Female Genetic Variation Haplotypes High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase/genetics Humans Male Pan troglodytes/genetics Polymorphism, Single Nucleotide Recombination, Genetic Sequence Analysis, DNA Species Specificity
Chemicals
Histone-Lysine N-Methyltransferase PRDM9 protein, human
Authors & Affiliations
23 authors, click to expand affiliations / ORCID
Auton Adam
Wellcome Trust Centre for Human Genetics, Oxford , UK.
Fledel-Alon Adi
Pfeifer Susanne
Venn Oliver
Ségurel Laure
Street Teresa
Leffler Ellen M
Bowden Rory
Aneas Ivy
Broxholme John
Humburg Peter
Iqbal Zamin
Lunter Gerton
Maller Julian
Hernandez Ryan D
Melton Cord
Venkat Aarti
Nobrega Marcelo A
Bontrop Ronald
Myers Simon
Donnelly Peter
Przeworski Molly
McVean Gil
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Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
1095-9203
Published
2012-04-13
Epub
2012-00-15
Pages
193-8
Language
English
Region
United States
NLM ID
0404511
PMCID
PMC3532813
Subset
IM
Grants
Wellcome Trust · 086786/Z/08/Z · United Kingdom
NHGRI NIH HHS · R01 HG004428 · United States
Howard Hughes Medical Institute · United States
Wellcome Trust · 086084/Z/08/Z · United Kingdom
Wellcome Trust · 090532 · United Kingdom
NIGMS NIH HHS · R01 GM83098 · United States
Wellcome Trust · 090532/Z/09/Z · United Kingdom
NIGMS NIH HHS · T32 GM007197 · United States
Wellcome Trust · 086084 · United Kingdom
Wellcome Trust · 076113/E/04/Z · United Kingdom
NIGMS NIH HHS · R01 GM083098 · United States
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