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Human evolutionary study on nucleotide sequence polymorphisms of a microsatellite in primates

灵长类微卫星核苷酸序列多态性的人类进化研究

基本信息

批准号：
10670387
负责人：
UCHIHI Rieko
金额：
$ 2.05万
依托单位：
Nagoya University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1998
资助国家：
日本
起止时间：
1998 至 1999
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-10670387/
关键词：
Microsatellite Primates Nucleotide sequences polymorphisms Evolution

项目摘要

A microsatellite D14S299 (wglc5) locus, in human has the variable repeats (GGAT or GGAA), and the nucleotide sequence polymorphisms in the Japanese population has been already reported. PCR amplification of the microsatellite at the D14S299 orthologue was performed with the same primers as used in human from 19 non-human primate species representing 3 species of ape, 8 of old World monkey, 6 of New World monkey and 2 of prosimian. PCR products were obtained from all species samples except prosimian. We determined nucleotide sequences of each allele in primates including 3 ape species (common chimpanzee, white-handed and agile gibbons) and 7 old World monkey species (baboon, Africa green monkey, patas monkey, stump-tailed macaque, crab eating macaque, rhesus macaque and Japanese macaque). The sequence data were compared with those of human. Three repetitive regions (GGAT or GGAA) in human were conserved among all alleles of catarrhine primates examined. The number of repetitive GGAT unit, which repeated only twice in human and common chimpanzee, increased as 3 to 11 in other catarrihine primates. Some species-or genus-specific nucleotide substitutions and/or insertions/deletions of tetranucleotide repeat unit were also observed. These results were summarized and published in DNA Polymorphism. in this year, the D14S299 orthologue was sequenced from three more ape species (pygmy chimpanzee, gorilla and orangutan). Form variable repeats as same as catarrhine primates were also observed in those species. A single nucleotide substitution occurred in the human lineage. This research has revealed that the microsatellite D14S299 is present in apes and Old World monkeys, and the common structures of the repeat regions are conserved among catarrhide primates. We are now trying the evolutionary analysis by locating the family-, genus- or species-specific differentiations on a given phylogenetic tree.

微卫星D14S299 （wglc5）基因座在人类中具有可变重复序列（GGAT或GGAA），且在日本人群中已报道其核苷酸序列多态性。采用与人相同的引物，对3种猿类、8种旧大陆猴、6种新大陆猴和2种原猴等19种非人灵长类动物的D14S299同源基因进行微卫星PCR扩增。除原猴外，所有物种均获得PCR产物。我们测定了灵长类动物的每个等位基因的核苷酸序列，包括3种猿类（普通黑猩猩、白手猿和敏捷长臂猿）和7种旧大陆猴（狒狒、非洲绿猴、patas猴、残尾猕猴、食蟹猕猴、恒河猴和日本猕猴）。并与人类进行了比较。在检测的所有卡鼻灵长类等位基因中，人类有三个重复区域（GGAT或GGAA）是保守的。在人类和普通黑猩猩中只重复两次的GGAT单元的数量在其他catarriine灵长类动物中增加了3到11个。一些物种或属特异性核苷酸替换和/或插入/缺失的四核苷酸重复单元也被观察到。这些结果已在《DNA多态性》杂志上发表。今年，又有三种猿类（侏儒黑猩猩、大猩猩和猩猩）对D14S299同源基因进行了测序。在这些物种中也观察到与卡塔林灵长类动物相同的形式可变重复。在人类谱系中发生了单核苷酸替换。本研究发现，微卫星D14S299在猿猴和旧大陆猴中均存在，其重复区域的共同结构在灵长类动物中是保守的。我们现在正尝试通过在给定的系统发育树上定位科、属或种特异性分化来进行进化分析。