Ptak Susan E, Hinds David A, Koehler Kathrin, Nickel Birgit, Patil Nila, Ballinger Dennis G, Przeworski Molly, Frazer Kelly A, Pääbo Svante
Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6 04103, Leipzig, Germany.
Nat Genet. 2005 Apr;37(4):429-34. doi: 10.1038/ng1529. Epub 2005 Feb 18.
Recombination rates seem to vary extensively along the human genome. Pedigree analysis suggests that rates vary by an order of magnitude when measured at the megabase scale, and at a finer scale, sperm typing studies point to the existence of recombination hotspots. These are short regions (1-2 kb) in which recombination rates are 10-1,000 times higher than the background rate. Less is known about how recombination rates change over time. Here we determined to what degree recombination rates are conserved among closely related species by estimating recombination rates from 14 Mb of linkage disequilibrium data in central chimpanzee and human populations. The results suggest that recombination hotspots are not conserved between the two species and that recombination rates in larger (50 kb) genomic regions are only weakly conserved. Therefore, the recombination landscape has changed markedly between the two species.
重组率似乎在人类基因组中广泛变化。系谱分析表明,在兆碱基尺度上测量时,重组率相差一个数量级,而在更精细的尺度上,精子分型研究表明存在重组热点。这些是短区域(1 - 2千碱基),其中重组率比背景率高10 - 1000倍。关于重组率如何随时间变化,人们了解得较少。在这里,我们通过估计黑猩猩中部种群和人类种群中14兆碱基连锁不平衡数据的重组率,来确定在密切相关的物种之间重组率在多大程度上是保守的。结果表明,这两个物种之间的重组热点并不保守,并且在更大(50千碱基)的基因组区域中,重组率仅具有微弱的保守性。因此,这两个物种之间的重组图谱发生了显著变化。