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Molecular cytogenetic study of species-specific chromosomal regions

物种特异性染色体区域的分子细胞遗传学研究

基本信息

批准号：
10554051
负责人：
HIRAI Momoki
金额：
$ 8.26万
依托单位：
The University of Tokyo
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B).
财政年份：
1998
资助国家：
日本
起止时间：
1998 至 2000
项目状态：
已结题

项目摘要

Since the draft sequences of the human genome were disclosed and publicized, this research field encounters a new phase. Gene function and biological significance of the constitution of human genome may be the main theme for further investigation. In the present study, search for the species-specific chromosomal regions has been attempted. In the present study, interests were focused on the evolutionary fusion point of human chromosome 2.It has been known that human chromosome 2 originated from the fusion of two ancestral primate chromosomes. This has been confirmed by chromosome banding and fluorescence in situ hybridization (FISH) with human chromosome-2-specific DNA libraries. In this study, the order of 38 cosmid clones derived from the human chromosome region 2q12-q14 was exactly determined by high-resolution FISH in human chromosome 2 and its homologous chromosomes in chimpanzees (Pan trogrodyzdes, 2n=48) and cynomolgus monkeys (Macaca fascicularis, 2n=42). This region includes the telomere-to-telomere fusion point of two ancestral ape-type chromosomes. As a result of comparisons with chimpanzee and cynomolgus monkey chromosomes, human chromosome region 2q12-q14 was found to correspond to the short arms of chimpanzee chromosomes 12 and 13 and cynomolgus monkey chromosomes 9 and 15. It is noted that no difference was detected in the relative order of the cosmid clones between human and chimpanzee chromosomes. This suggests that two ancestral ape-type chromosomes fused tandemly at telomeres to form human chromosome 2, and the genomic organization of this region is thought to be considerably conserved. In the cynomolgus monkey, however, the order of clones in each homologue was inverted. Interestingly, the number of repeated arrays around the fusion point was found to exhibit polymorphism.

人类基因组草图的公布，使这一研究领域进入了一个新的阶段。基因功能和人类基因组组成的生物学意义可能是进一步研究的主题。在本研究中，物种特异性染色体区域的搜索已被尝试。本研究主要关注人类2号染色体的进化融合点。目前已知人类2号染色体起源于两个灵长类祖先染色体的融合。这已证实了染色体显带和荧光原位杂交（FISH）与人类2号染色体特异性DNA文库。本研究采用高分辨FISH技术，对人2号染色体及其在黑猩猩（Pan trogrodyzdes，2n=48）和食蟹猴（Macaca fascicularis，2n=42）同源染色体上的38个粘粒克隆进行了序列测定。该区域包括两个祖先猿类染色体的端粒-端粒融合点。作为与黑猩猩和食蟹猴染色体比较的结果，发现人类染色体区域2 q12-q14对应于黑猩猩染色体12和13以及食蟹猴染色体9和15的短臂。值得注意的是，在人类和黑猩猩染色体之间的粘粒克隆的相对顺序中没有检测到差异。这表明，两个祖先猿类染色体在端粒串联融合形成人类2号染色体，该区域的基因组组织被认为是相当保守的。然而，在食蟹猴中，每个同源物中的克隆顺序颠倒。有趣的是，融合点周围的重复阵列的数量被发现表现出多态性。