The Human SDF1 Gene Polymorphism Is Located on a Mutational Hot Spot that Was Identified by the Hominoid Genome Study

The Human SDF1 Gene Polymorphism Is Located on a Mutational Hot Spot that Was Identified by the Hominoid Genome Study
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人科动物基因组研究发现人类SDF1基因多态性位于突变热点

DOI:
10.1353/hub.2001.0084
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发表时间:
2001
期刊:
影响因子:
--
通讯作者:
T. Ishida
T. Ishida
中科院分区:
生物学4区
文献类型:
--
作者:
R. Kimura;T. Ishida

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研究了类人猿(黑猩猩、大猩猩、猩猩和长臂猿)基质细胞衍生因子-1(SDF-1)基因3 ′非翻译区的部分核苷酸序列。在黑猩猩和长臂猿中发现了与人类SDF 1 -3 ′ G等位基因相同的序列,而在大猩猩中发现了3 ′ A等位基因。基于序列数据和类人猿系统发育关系,推测人类和大猩猩第801位核苷酸(np)的腺嘌呤核苷酸是在特异分化后独立引入到各自的谱系中的,该位点(np 799-802)的祖先类人猿序列被推断为CCGG。目前的数据显示该位点上的突变热点表明,SDF 1 -3 ′ A等位基因在人类中的全球分布可能存在多个起源。
Nucleotide sequences of a part of the stromal cell-derived factor-1 (SDF-1) gene 3´ untranslated region were studied among hominoids (chimpanzees, gorillas, orangutans and gibbons). An identical sequence to the human SDF1-3´G allele was found in chimpanzees and gibbons, whereas that to the 3´A allele was found in gorillas. Based on the sequence data and the hominoid phylogenetic relation, it was suggested that an adenine nucleotide at nucleotide position (np) 801 in humans and gorillas was independently introduced into each lineage after the specific divergence and an ancestral hominoid sequence of this site (np 799-802) was deduced as CCGG. The present data showing a mutational hot spot on this site suggest the possible presence of multiple origins of the worldwide distribution of the SDF1-3´A allele in humans.
DOI: 10.1038/382722a0
发表时间: 1996-08-22
期刊: NATURE
影响因子: 64.8
作者:
Samson, M;Libert, F;Parmentier, M
通讯作者: Parmentier, M