A burst of segmental duplications in the genome of the African great ape ancestor.
A burst of segmental duplications in the genome of the African great ape ancestor.
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DOI：
10.1038/nature07744
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发表时间：
2009-02-12
期刊：
影响因子：
64.8
通讯作者：
Eichler, Evan E.
中科院分区：
文献类型：
--
作者：
Marques-Bonet, Tomas;Kidd, Jeffrey M.;Ventura, Mario;Graves, Tina A.;Cheng, Ze;Hillier, LaDeana W.;Jiang, Zhaoshi;Baker, Carl;Malfavon-Borja, Ray;Fulton, Lucinda A.;Alkan, Can;Aksay, Gozde;Girirajan, Santhosh;Siswara, Priscillia;Chen, Lin;Cardone, Maria Francesca;Navarro, Arcadi;Mardis, Elaine R.;Wilson, Richard K.;Eichler, Evan E.
威尔逊和金是最早认识到人类和类人猿之间表型变化的程度与分子变化速度不一致的人之一。蛋白质几乎是相同的；从细胞遗传学角度来看，区分猿与人染色体的重排很少；与啮齿动物或猴子相比，单碱基对变化和逆转录子活性的速率已经减慢，特别是在原始人类谱系中。在这里，我们对四种灵长类动物基因组（猕猴、猩猩、黑猩猩和人类）的重复内容进行了系统分析，以了解原始人类进化过程中基因组重复的模式和速率。我们发现，导致人类和非洲类人猿的祖先分支在碱基对和事件方面都表现出最显着的重复活动增加。即使在考虑了拷贝数多态性和同质性之后，与谱系特异性速率估计相比，祖先物种内的复制加速也是显着的。我们在大猩猩和黑猩猩中发现了人类谱系中不存在的重复且独立的含有基因重复的惊人例子。我们的结果表明，拷贝数突变的进化特性与其他形式的基因突变显着不同，并且与单碱基对突变的原始人类减慢相反，在人类进化过程中的这一时期，出现了基因组复制活动的爆发。
Wilson and King were among the first to recognize that the extent of phenotypic change between humans and great apes was dissonant with the rate of molecular change. Proteins are virtually identical; cytogenetically there are few rearrangements that distinguish ape-human chromosomes; rates of single-basepair change and retroposon activity have slowed particularly within hominid lineages when compared to rodents or monkeys. Here, we perform a systematic analysis of duplication content of four primate genomes (macaque, orangutan, chimpanzee and human) in an effort to understand the pattern and rates of genomic duplication during hominid evolution. We find that the ancestral branch leading to human and African great apes shows the most significant increase in duplication activity both in terms of basepairs and in terms of events. This duplication acceleration within the ancestral species is significant when compared to lineage-specific rate estimates even after accounting for copy-number polymorphism and homoplasy. We discover striking examples of recurrent and independent gene-containing duplications within the gorilla and chimpanzee that are absent in the human lineage. Our results suggest that the evolutionary properties of copy-number mutation differ significantly from other forms of genetic mutation and, in contrast to the hominid slowdown of single basepair mutations, there has been a genomic burst of duplication activity at this period during human evolution.
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