Primate Comparative Genome Analysis and Study on Mechanisms of Human Evolution

我们最突出的成就是黑猩猩22号染色体长臂基因组序列的测定和进化分析，于2004年发表在《自然》杂志上。Saitou和Fujiyama都是这篇论文的通讯作者。详细描述了氨基酸序列和基因组序列的差异。特别是，插入和缺失之间的明显差异被发现。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，并估计核苷酸取代模式。另一个大规模研究是确定黑猩猩BAC文库的BAC末端序列，并且人-黑猩猩在核苷酸取代方面的差异被确定为1.23%（Fujiyama等人，Science，2002）。还构建了大猩猩fosmid文库（Kim等人，我们还比较了人类、黑猩猩、大猩猩和猩猩的103种蛋白质编码基因序列（Kitano等人，分子生物学和进化，2004）。各种统计测试被用来检测人类特定的变化，但每一个测试都选择了不同的基因组。其他结果包括在SCA三联体重复多态性（Andres等人，Journal of Molecular Evolution）和多聚泛素（Tachikui等人，Journal of Molecular Evolution），以及对非洲野生黑猩猩的线粒体DNA多态性研究（Shimada et al.，美国灵长类动物学杂志（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).