Calabrese Peter
Molecular and Computational Biology, University of Southern California, 1050 Childs Way, Los Angeles, CA 90089-2910, USA.
Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4748-52. doi: 10.1073/pnas.0610195104. Epub 2007 Mar 5.
Both sperm typing and linkage disequilibrium patterns from large population genetic data sets have demonstrated that recombination hotspots are responsible for much of the recombination activity in the human genome. Sperm typing has also revealed that some hotspots are heterogeneous in the population; and linkage disequilibrium patterns from the chimpanzee have implied that hotspots change at least on the separation time between these species. We propose a population genetics model, inspired by the double-strand break model, which features recombination hotspots that are heterogeneous across the population and whose population frequency changes with time. We have derived a diffusion approximation and written a coalescent simulation program. This model has implications for the "hotspot paradox."
来自大型群体遗传数据集的精子分型和连锁不平衡模式均表明，重组热点是人类基因组中大部分重组活动的原因。精子分型还揭示了一些热点在群体中是异质的；而黑猩猩的连锁不平衡模式则暗示热点至少在这些物种的分离时间上发生了变化。我们提出了一个受双链断裂模型启发的群体遗传模型，其特点是重组热点在群体中是异质的，且其群体频率随时间变化。我们推导了一个扩散近似并编写了一个合并模拟程序。该模型对“热点悖论”有一定影响。
