Estación Biológia de Doñana EBD-CSIC, Sevilla, Spain.
PLoS One. 2011;6(11):e25498. doi: 10.1371/journal.pone.0025498. Epub 2011 Nov 10.
Meiotic recombination is a fundamental process needed for the correct segregation of chromosomes during meiosis in sexually reproducing organisms. In humans, 80% of crossovers are estimated to occur at specific areas of the genome called recombination hotspots. Recently, a protein called PRDM9 was identified as a major player in determining the location of genome-wide meiotic recombination hotspots in humans and mice. The origin of this protein seems to be ancient in evolutionary time, as reflected by its fairly conserved structure in lineages that diverged over 700 million years ago. Despite its important role, there are many animal groups in which Prdm9 is absent (e.g. birds, reptiles, amphibians, diptera) and it has been suggested to have disruptive mutations and thus to be a pseudogene in dogs. Because of the dog's history through domestication and artificial selection, we wanted to confirm the presence of a disrupted Prdm9 gene in dogs and determine whether this was exclusive of this species or whether it also occurred in its wild ancestor, the wolf, and in a close relative, the coyote. We sequenced the region in the dog genome that aligned to the last exon of the human Prdm9, containing the entire zinc finger domain, in 4 dogs, 17 wolves and 2 coyotes. Our results show that the three canid species possess mutations that likely make this gene non functional. Because these mutations are shared across the three species, they must have appeared prior to the split of the wolf and the coyote, millions of years ago, and are not related to domestication. In addition, our results suggest that in these three canid species recombination does not occur at hotspots or hotspot location is controlled through a mechanism yet to be determined.
减数分裂重组是有性繁殖生物减数分裂过程中正确分离染色体所必需的基本过程。在人类中,估计 80%的交叉发生在基因组的特定区域,称为重组热点。最近,一种名为 PRDM9 的蛋白质被确定为决定人类和小鼠全基因组减数分裂热点位置的主要因素。这种蛋白质的起源在进化时间上似乎很古老,因为它在 7 亿多年前分化的谱系中具有相当保守的结构。尽管它具有重要的作用,但在许多动物群体中,Prdm9 缺失(例如鸟类、爬行动物、两栖动物、双翅目),并且有人认为它具有破坏性突变,因此在狗中是一个假基因。由于狗的历史经历了驯化和人工选择,我们想确认狗中存在破坏的 Prdm9 基因,并确定这是否是该物种所独有的,还是也发生在其野生祖先狼和近亲郊狼中。我们对 4 只狗、17 只狼和 2 只郊狼的基因组中的区域进行了测序,该区域与人类 Prdm9 的最后一个外显子对齐,包含整个锌指结构域。我们的结果表明,这三个犬科物种具有可能使该基因失去功能的突变。由于这些突变在三个物种中共享,它们一定是在狼和郊狼分化之前,即数百万年前出现的,与驯化无关。此外,我们的结果表明,在这三个犬科物种中,重组不会发生在热点处,或者热点位置是通过尚未确定的机制来控制的。