A Fine-Scale Chimpanzee Genetic Map from Population Sequencing

被引：217

作者：

Auton, Adam ^{[1
,2
]}

Fledel-Alon, Adi ^{[3
]}

Pfeifer, Susanne ^{[4
]}

Venn, Oliver ^{[1
]}

Segurel, Laure ^{[3
,5
]}

Street, Teresa ^{[4
]}

Leffler, Ellen M. ^{[3
]}

Bowden, Rory ^{[1
,4
,6
]}

Aneas, Ivy ^{[3
]}

Broxholme, John ^{[1
]}

Humburg, Peter ^{[1
]}

Iqbal, Zamin ^{[1
]}

Lunter, Gerton ^{[1
]}

Maller, Julian ^{[1
,4
]}

Hernandez, Ryan D. ^{[7
]}

Melton, Cord ^{[3
]}

Venkat, Aarti ^{[3
,5
]}

Nobrega, Marcelo A. ^{[3
]}

Bontrop, Ronald ^{[8
]}

Myers, Simon ^{[1
,4
]}

Donnelly, Peter ^{[1
,4
]}

Przeworski, Molly ^{[3
,5
,9
]}

McVean, Gil ^{[1
,4
]}

机构：

[1] Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[2] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA

[3] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[4] Univ Oxford, Dept Stat, Oxford OX1 3TG, England

[5] Univ Chicago, Howard Hughes Med Inst, Chicago, IL 60637 USA

[6] Univ Oxford, Nuffield Dept Med, Oxford Biomed Res Ctr, Oxford OX3 9DU, England

[7] Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA

[8] Biomed Primate Res Ctr, Dept Comparat Genet & Refinement, NL-2288 GJ Rijswijk, Netherlands

[9] Univ Chicago, Dept Ecol & Evolut, Chicago, IL 60637 USA

来源：

SCIENCE | 2012年 / 336卷 / 6078期

基金：

英国惠康基金;

关键词：

RECOMBINATION HOT-SPOTS; MEIOTIC RECOMBINATION; HUMAN GENOME; PRDM9; HOTSPOTS; HUMANS; RATES; INSTABILITY; LANDSCAPE; EVOLUTION;

D O I：

10.1126/science.1216872

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：193 / 198

页数：6

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