High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans

被引:286
作者
Coop, Graham [1 ]
Wen, Xiaoquan [1 ]
Ober, Carole [1 ,2 ]
Pritchard, Jonathan K. [1 ]
Przeworski, Molly [1 ]
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
关键词
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.
引用
收藏
页码:1395 / 1398
页数:4
相关论文
共 31 条
[1]   Estimation of variance components of quantitative traits in inbred populations [J].
Abney, M ;
McPeek, MS ;
Ober, C .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :629-650
[2]   Primate segmental duplications: crucibles of evolution, diversity and disease [J].
Bailey, Jeffrey A. ;
Eichler, Evan E. .
NATURE REVIEWS GENETICS, 2006, 7 (07) :552-564
[3]   The hotspot conversion paradox and the evolution of meiotic recombination [J].
Boulton, A ;
Myers, RS ;
Redfield, RJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (15) :8058-8063
[4]   Comprehensive human genetic maps: Individual and sex-specific variation in recombination [J].
Broman, KW ;
Murray, JC ;
Sheffield, VC ;
White, RL ;
Weber, JL .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (03) :861-869
[5]   Polymorphic variation in human meiotic recombination [J].
Cheung, Vivian G. ;
Burdick, Joshua T. ;
Hirschmann, Deborah ;
Morley, Michael .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (03) :526-530
[6]   An evolutionary view of human recombination [J].
Coop, Graham ;
Przeworski, Molly .
NATURE REVIEWS GENETICS, 2007, 8 (01) :23-34
[7]   Live hot, die young: Transmission distortion in recombination hotspots [J].
Coop, Graham ;
Myers, Simon R. .
PLOS GENETICS, 2007, 3 (03) :377-386
[8]   Evidence for substantial fine-scale variation in recombination rates across the human genome [J].
Crawford, DC ;
Bhangale, T ;
Li, N ;
Hellenthal, G ;
Rieder, MJ ;
Nickerson, DA ;
Stephens, M .
NATURE GENETICS, 2004, 36 (07) :700-706
[9]   A second generation human haplotype map of over 3.1 million SNPs [J].
Frazer, Kelly A. ;
Ballinger, Dennis G. ;
Cox, David R. ;
Hinds, David A. ;
Stuve, Laura L. ;
Gibbs, Richard A. ;
Belmont, John W. ;
Boudreau, Andrew ;
Hardenbol, Paul ;
Leal, Suzanne M. ;
Pasternak, Shiran ;
Wheeler, David A. ;
Willis, Thomas D. ;
Yu, Fuli ;
Yang, Huanming ;
Zeng, Changqing ;
Gao, Yang ;
Hu, Haoran ;
Hu, Weitao ;
Li, Chaohua ;
Lin, Wei ;
Liu, Siqi ;
Pan, Hao ;
Tang, Xiaoli ;
Wang, Jian ;
Wang, Wei ;
Yu, Jun ;
Zhang, Bo ;
Zhang, Qingrun ;
Zhao, Hongbin ;
Zhao, Hui ;
Zhou, Jun ;
Gabriel, Stacey B. ;
Barry, Rachel ;
Blumenstiel, Brendan ;
Camargo, Amy ;
Defelice, Matthew ;
Faggart, Maura ;
Goyette, Mary ;
Gupta, Supriya ;
Moore, Jamie ;
Nguyen, Huy ;
Onofrio, Robert C. ;
Parkin, Melissa ;
Roy, Jessica ;
Stahl, Erich ;
Winchester, Ellen ;
Ziaugra, Liuda ;
Altshuler, David ;
Shen, Yan .
NATURE, 2007, 449 (7164) :851-U3
[10]   To ERR (meiotically) is human: The genesis of human aneuploidy [J].
Hassold, T ;
Hunt, P .
NATURE REVIEWS GENETICS, 2001, 2 (04) :280-291