PRDM9 及其在基因重组中的作用。
PRDM9 and Its Role in Genetic Recombination.
机构信息
The Jackson Laboratory, Bar Harbor, ME, USA.
出版信息
Trends Genet. 2018 Apr;34(4):291-300. doi: 10.1016/j.tig.2017.12.017. Epub 2018 Jan 21.
Abstract
PRDM9 is a zinc finger protein that binds DNA at specific locations in the genome where it trimethylates histone H3 at lysines 4 and 36 at surrounding nucleosomes. During meiosis in many species, including humans and mice where PRDM9 has been most intensely studied, these actions determine the location of recombination hotspots, where genetic recombination occurs. In addition, PRDM9 facilitates the association of hotspots with the chromosome axis, the site of the programmed DNA double-strand breaks (DSBs) that give rise to genetic exchange between chromosomes. In the absence of PRDM9 DSBs are not properly repaired. Collectively, these actions determine patterns of genetic linkage and the possibilities for chromosome reorganization over successive generations.
摘要
PRDM9 是一种锌指蛋白，可在基因组的特定位置与 DNA 结合，在周围核小体处将组蛋白 H3 的赖氨酸 4 和 36 三甲基化。在许多物种的减数分裂过程中，包括人类和小鼠（其中 PRDM9 研究最为深入），这些作用决定了重组热点的位置，即遗传重组发生的位置。此外，PRDM9 有助于将热点与染色体轴（程序性 DNA 双链断裂 (DSB) 的发生位点）联系起来，从而导致染色体之间的遗传交换。如果没有 PRDM9，DSB 就不能得到正确修复。这些作用共同决定了遗传连锁的模式以及染色体在连续几代中的重组可能性。
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2
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3
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