期刊
SCIENCE
卷 319, 期 5868, 页码 1395-1398出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1151851
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资金
- NHGRI NIH HHS [HG002772, R01 HG002772] Funding Source: Medline
- NHLBI NIH HHS [HL56399, HL56533] Funding Source: Medline
- NICHD NIH HHS [HD21244] Funding Source: Medline
- NIGMS NIH HHS [GM83098] Funding Source: Medline
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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