DNA sequence and comparative analysis of chimpanzee chromosome 22
DNA sequence and comparative analysis of chimpanzee chromosome 22
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DOI：
10.1038/nature02564
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发表时间：
2004-05-27
期刊：
影响因子：
64.8
通讯作者：
Sakaki, Y
中科院分区：
文献类型：
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作者：
Watanabe, H;Fujiyama, A;Sakaki, Y
人类和黑猩猩的比较基因组研究对于缩小获得独特人类特征所涉及的基因变化至关重要，这些特征包括高度发育的认知功能、两足动物或使用复杂语言。在这里，我们报告了黑猩猩22号染色体33.3兆碱基的高质量DNA序列。通过与人类21号染色体的全序列比较，我们发现1.44%的染色体除了近6.8万个插入或缺失外，还包括单碱基替换。这些差异足以引起大多数蛋白质的变化。事实上，231个编码序列中的83%，包括功能重要的基因，在氨基酸序列水平上显示出差异。此外，我们证明了特定的反转录转座子亚家族在不同谱系之间的不同扩展，表明反转录转座对人类和黑猩猩进化的不同影响。物种形成后的基因组变化及其生物学后果似乎比最初假设的更复杂。
Human-chimpanzee comparative genome research is essential for narrowing down genetic changes involved in the acquisition of unique human features, such as highly developed cognitive functions, bipedalism or the use of complex language. Here, we report the high-quality DNA sequence of 33.3 megabases of chimpanzee chromosome 22. By comparing the whole sequence with the human counterpart, chromosome 21, we found that 1.44% of the chromosome consists of single-base substitutions in addition to nearly 68,000 insertions or deletions. These differences are sufficient to generate changes in most of the proteins. Indeed, 83% of the 231 coding sequences, including functionally important genes, show differences at the amino acid sequence level. Furthermore, we demonstrate different expansion of particular subfamilies of retrotransposons between the lineages, suggesting different impacts of retrotranspositions on human and chimpanzee evolution. The genomic changes after speciation and their biological consequences seem more complex than originally hypothesized.