共 31 条
High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans
被引:286
作者:

Coop, Graham
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Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA

Wen, Xiaoquan
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Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA

Ober, Carole
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机构:
Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA
Univ Chicago, Dept Obstet & Gynecol, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA

Pritchard, Jonathan K.
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Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA

Przeworski, Molly
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Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA
机构:
[1] Univ Chicago, Dept Human Genet, Cummings Life Sci Ctr, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Obstet & Gynecol, Chicago, IL 60637 USA
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D O I:
10.1126/science.1151851
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:
Recombination plays a crucial role in meiosis, ensuring the proper segregation of chromosomes. Recent linkage disequilibrium ( LD) and sperm- typing studies suggest that recombination rates vary tremendously across the human genome, with most events occurring in narrow "hotspots." To examine variation in fine- scale recombination patterns among individuals, we used dense, genome- wide single- nucleotide polymorphism data collected in nuclear families to localize crossovers with high spatial resolution. This analysis revealed that overall recombination hotspot usage is similar in males and females, with individual hotspots often active in both sexes. Across the genome, roughly 60% of crossovers occurred in hotspots inferred from LD studies. Notably, however, we found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots.
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页码:1395 / 1398
页数:4
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