Jeffreys Alec J, Holloway J Kim, Kauppi Liisa, May Celia A, Neumann Rita, Slingsby M Timothy, Webb Adam J
Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.
Philos Trans R Soc Lond B Biol Sci. 2004 Jan 29;359(1441):141-52. doi: 10.1098/rstb.2003.1372.
Meiotic recombination plays a key role in the maintenance of sequence diversity in the human genome. However, little is known about the fine-scale distribution and processes of recombination in human chromosomes, or how these impact on patterns of human diversity. We have therefore developed sperm typing systems that allow human recombination to be analysed at very high resolution. The emerging picture is that human crossovers are far from randomly distributed but instead are targeted into very narrow hot spots that can profoundly influence patterns of haplotype diversity in the human genome. These hot spots provide fundamental information on processes of human crossover and gene conversion, as well as evidence that they can violate basic rules of Mendelian inheritance.
减数分裂重组在维持人类基因组序列多样性方面起着关键作用。然而，对于人类染色体中重组的精细尺度分布和过程，或者这些如何影响人类多样性模式，我们知之甚少。因此，我们开发了精子分型系统，能够以非常高的分辨率分析人类重组。新出现的情况是，人类交叉并非随机分布，而是集中在非常狭窄的热点区域，这些热点区域会深刻影响人类基因组中的单倍型多样性模式。这些热点区域提供了有关人类交叉和基因转换过程的基本信息，同时也证明它们可能违反孟德尔遗传的基本规则。
