Submitted on October 17, 2007
Accepted on January 21, 2008
High-Resolution Mapping of Crossovers Reveals Extensive Variation in Fine-Scale Recombination Patterns Among Humans
Graham Coop 1*, Xiaoquan Wen 1, Carole Ober 2, Jonathan K. Pritchard 1*, Molly Przeworski 1*
1 Department of Human Genetics, University of Chicago, 920 E. 58th Street, CLSC 5th floor Chicago, IL 60637, USA.
2 Department of Human Genetics, University of Chicago, 920 E. 58th Street, CLSC 5th floor Chicago, IL 60637, USA.; Department of Obstetrics and Gynecology, University of Chicago, IL, USA.
* To whom correspondence should be addressed.
Graham Coop , E-mail: gcoop{at}uchicago.edu
Jonathan K. Pritchard , E-mail: pritch{at}uchicago.edu
Molly Przeworski , E-mail: mfp{at}uchicago.edu
Recombination plays a crucial role in meiosis, ensuring the proper segregation of chromosomes. Recent linkage disequilibrium 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 SNP 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, approximately 60% of crossovers occurred in hotspots inferred from studies of linkage disequilibrium. Remarkably, however, we found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots.
