Y-Chromosome Structural Diversity in the Bonobo and Chimpanzee Lineages.
Y-Chromosome Structural Diversity in the Bonobo and Chimpanzee Lineages.
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DOI：
10.1093/gbe/evw150
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发表时间：
2016-08-03
影响因子：
3.3
通讯作者：
Kidd JM
中科院分区：
文献类型：
--
作者：
Oetjens MT;Shen F;Emery SB;Zou Z;Kidd JM
灵长类动物y染色体（MSY）的雄性特异性区域富含在睾丸中高表达的多拷贝基因。这些基因位于大的重复序列中，排列成回文、倒置和串联重复序列，称为扩增子。在人类中，这些基因在男性生育能力中起着关键作用，对精子的产生至关重要。人类和黑猩猩扩增子序列的结构相对于基因组的其余部分显示出显著的差异，这种差异可能是男性生育能力受到强烈选择压力的结果。普通黑猩猩的四个亚种经历了长时间的隔离，似乎处于亚种形成的早期过程。最近的一项研究发现，灵长类动物x染色体上睾丸表达基因的扩增子是硬选择扫描的目标，而y染色体上的雄性生育基因也可能是选择的目标。然而，人们对黑猩猩种群内和种群间y染色体扩增子的多样性知之甚少。在这里，我们分析了9种常见的黑猩猩（代表3个亚种：类人猿史威因富特猿、猿人猿略猿和猿人猿）和2种倭黑猩猩（类人猿）的雄性全基因组序列，以评估类人猿属的Y扩增拷贝数多样性。我们观察到Y染色体扩增子的拷贝数在黑猩猩和倭黑猩猩中是可变的，并确定了几种谱系特异性模式，包括无精子症候选基因RBMY和DAZ的拷贝数可变。我们在黑猩猩种群的扩增区发现了复制数变化的反复开关点，这可能是局部基因组不稳定或选择力的结果。
The male-specific regions of primate Y-chromosomes (MSY) are enriched for multi-copy genes highly expressed in the testis. These genes are located in large repetitive sequences arranged as palindromes, inverted-, and tandem repeats termed amplicons. In humans, these genes have critical roles in male fertility and are essential for the production of sperm. The structure of human and chimpanzee amplicon sequences show remarkable difference relative to the remainder of the genome, a difference that may be the result of intense selective pressure on male fertility. Four subspecies of common chimpanzees have undergone extended periods of isolation and appear to be in the early process of subspeciation. A recent study found amplicons enriched for testis-expressed genes on the primate X-chromosome the target of hard selective sweeps, and male-fertility genes on the Y-chromosome may also be the targets of selection. However, little is understood about Y-chromosome amplicon diversity within and across chimpanzee populations. Here, we analyze nine common chimpanzee (representing three subspecies: Pan troglodytes schweinfurthii, Pan troglodytes ellioti, and Pan troglodytes verus) and two bonobo (Pan paniscus) male whole-genome sequences to assess Y ampliconic copy-number diversity across the Pan genus. We observe that the copy number of Y chromosome amplicons is variable among chimpanzees and bonobos, and identify several lineage-specific patterns, including variable copy number of azoospermia candidates RBMY and DAZ. We detect recurrent switchpoints of copy-number change along the ampliconic tracts across chimpanzee populations, which may be the result of localized genome instability or selective forces.