Primate Comparative Genome Analysis and Study on Mechanisms of Human Evolution

我们最突出的成就是测定和进化分析黑猩猩22号染色体长臂基因组序列，发表在2004年的《自然》杂志上。Saitou和Fujiyama是本文的通讯作者。详细描述了氨基酸序列和基因组序列的差异。特别是，插入和删除之间有明显的区别。我们还使用黑猩猩基因组序列作为外群来推断产生人类SNP的突变方向，并估计核苷酸替代模式。另一项大规模研究是测定黑猩猩BAC文库的BAC端序列，确定人类-黑猩猩在核苷酸取代方面的差异为1.23% （Fujiyama et al., Science, 2002）。还构建了大猩猩化石库（Kim et al., Genomics,2003）。我们还比较了人类、黑猩猩、大猩猩和猩猩的103个蛋白质编码基因序列（Kitano et al., Molecular Biology and Evolution, 2004）。他们使用了各种统计测试来检测人类的特定变化，但每种测试都选择了不同的一组基因。其他研究结果还包括不同类型人类和类人猿SCA三联体重复多态性的比较（Andres et al., Journal of Molecular Evolution）和多泛素（Tachikui et al., Journal of Molecular Evolution），以及非洲野生黑猩猩线粒体DNA多态性的研究（Shimada et al., American Journal of Primatology）。

Our most prominent achievement was determination and evolutionary analysis of chimpanzee chromosome 22 long arm genomic sequences, published in Nature in 2004. Saitou and Fujiyama were both corresponding authors of this paper. Detailed difference on amino acid sequences and genomic sequences were delineated. In particular, clear difference between insertion and deletion was discovered. We also used chimpanzee genome sequence as outgroup to infer direction of mutations that created human SNP, and estimated nucleotide substitution patterns. Another large scale study was determination of BAC-end sequences of chimpanzee BAC library, and human-chimpanzee difference in terms of nucleotide substitution was determined to be 1.23% (Fujiyama et al., Science, 2002). Gorilla fosmid library was also constructed (Kim et al., Genomics,2003).We also compared 103 protein coding gene sequences for human, chimpanzee, gorilla, and orangutan (Kitano et al., Molecular Biology and Evolution, 2004). Various statistical tests were used to detect human specific changes, but each test picked up different set of genes. Other results include various types of human and ape comparison on SCA triplet repeat polymorphism (Andres et al, Journal of Molecular Evolution) and polyubiquitin (Tachikui et al., Journal of Molecular Evolution), as well as mitochondrial DNA polymorphism study on African wild chimpanzees (Shimada et al., American Journal of Primatology).