A genome-wide comparison of recent chimpanzee and human segmental duplications
A genome-wide comparison of recent chimpanzee and human segmental duplications
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DOI：
10.1038/nature04000
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发表时间：
2005-09-01
期刊：
影响因子：
64.8
通讯作者：
Eichler, EE
中科院分区：
文献类型：
--
作者：
Cheng, Z;Ventura, M;Eichler, EE
我们对人类和黑猩猩之间片段复制的差异进行了全球比较，并确定33%的人类复制（>94%的序列同一性）在黑猩猩中没有复制，包括一些导致人类疾病的复制。结合实验和计算方法，我们估计基因组重复率为4 - 5百万分之一，因为分歧。这些变化导致了物种之间的基因表达差异。就受影响的碱基对数量而言，我们确定从头复制对物种之间的差异贡献最大，其次是祖先复制的缺失。物种形成后的基因转换占最近的片段复制的不到10%。黑猩猩特有的过度膨胀（. 100个拷贝）的特定DNA片段导致了黑猩猩和人类之间基因组景观的显著数量差异和改变。几乎所有最极端的差异都与染色体结构的变化有关，包括非洲巨猿亚末端异染色质的出现。然而，碱基对碱基，大片段重复事件有更大的影响（2.7%），在改变这两个物种的基因组景观比单碱基对取代（1.2%）。
We present a global comparison of differences in content of segmental duplication between human and chimpanzee, and determine that 33% of human duplications (>94% sequence identity) are not duplicated in chimpanzee, including some human disease-causing duplications. Combining experimental and computational approaches, we estimate a genomic duplication rate of 4 - 5 megabases per million years since divergence. These changes have resulted in gene expression differences between the species. In terms of numbers of base pairs affected, we determine that de novo duplication has contributed most significantly to differences between the species, followed by deletion of ancestral duplications. Post-speciation gene conversion accounts for less than 10% of recent segmental duplication. Chimpanzee-specific hyperexpansion (. 100 copies) of particular segments of DNA have resulted in marked quantitative differences and alterations in the genome landscape between chimpanzee and human. Almost all of the most extreme differences relate to changes in chromosome structure, including the emergence of African great ape subterminal heterochromatin. Nevertheless, base per base, large segmental duplication events have had a greater impact (2.7%) in altering the genomic landscape of these two species than single-base-pair substitution (1.2%).