Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway

Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway
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DOI:
10.1038/ng1729
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发表时间:
2006-02-01
期刊:
影响因子:
30.8
通讯作者:
Fujiyama, A
Fujiyama, A
中科院分区:
生物学1区
文献类型:
--
作者:
Kuroki, Y;Toyoda, A;Fujiyama, A

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与常染色体或X染色体相比,哺乳动物Y染色体具有独特的特征。在这里,我们报告完成的序列的黑猩猩Y染色体(PTRY),包括271 kb的Y特异性的假常染色体区域1和12.7 Mb的男性特异性区域的Y染色体。人类Y染色体(HSAY)和PTRY之间的序列差异(1.78%)比它们各自的全基因组之间的序列差异(1.23%)更大,证实了Y染色体的加速进化速率。分析的19个PTRY蛋白编码基因中的每一个都至少有一个非同义替换,并且11个基因的非同义替换率高于同义替换率,这表明选择约束的放松、正选择或两者兼而有之。我们还确定了谱系特异性的变化,包括删除一个200 kb的片段从pericentromeric区域的HSAY,年轻的Alu家族的扩展在HSAY和年轻的L1元件和长末端重复反转录转座子在PTRY的积累。共同祖先Y染色体的重建反映了自物种形成以来500 - 600万年来我们基因组的动态变化。
The mammalian Y chromosome has unique characteristics compared with the autosomes or X chromosomes. Here we report the finished sequence of the chimpanzee Y chromosome (PTRY), including 271 kb of the Y-specific pseudoautosomal region 1 and 12.7 Mb of the male-specific region of the Y chromosome. Greater sequence divergence between the human Y chromosome (HSAY) and PTRY (1.78%) than between their respective whole genomes (1.23%) confirmed the accelerated evolutionary rate of the Y chromosome. Each of the 19 PTRY protein-coding genes analyzed had at least one nonsynonymous substitution, and 11 genes had higher nonsynonymous substitution rates than synonymous ones, suggesting relaxation of selective constraint, positive selection or both. We also identified lineage-specific changes, including deletion of a 200-kb fragment from the pericentromeric region of HSAY, expansion of young Alu families in HSAY and accumulation of young L1 elements and long terminal repeat retrotransposons in PTRY. Reconstruction of the common ancestral Y chromosome reflects the dynamic changes in our genomes in the 5 - 6 million years since speciation.