Genetic diversity and evolution of the human leptin locus tetranucleotide repeat.
Genetic diversity and evolution of the human leptin locus tetranucleotide repeat.
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人类瘦素基因座四核苷酸重复的遗传多样性和进化。
DOI：
10.1007/s00439-002-0715-5
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
Ferrell,RobertE
中科院分区：
文献类型：
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作者：
Moffett,Susan;Martinson,Jeremy;Shriver,MarkD;Deka,Ranjan;McGarvey,StephenT;Barrantes,Ramiro;Ferrell,RobertE
为了更好地了解包含多功能脂肪组织激素瘦素的基因区域的进化历史，我们对来自12个世界人群的1，957名个体进行了基因分型，以获得位于瘦素基因外显子3的476 bp 3′的高度可变的四核苷酸重复多态性。对种群间共有的等位基因、特定于地理种群的等位基因以及普通黑猩猩、侏儒黑猩猩、大猩猩和猩猩中的同源等位基因进行测序，以在核苷酸水平上定义等位基因变异。这些数据揭示了一组共同的等位基因共享的世界人口，推测已经出现了从一个大猿祖先等位基因之前的分歧的主要地理细分的人口，一个子集的等位基因特定于人口的非洲血统和第二组等位基因的核心重复单元的串联重复后，非洲和非非洲人口的分离。这些发现强调了该位点复杂的进化历史，并提出了在关联研究中该位点等位基因汇集的警告。
To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3′ of exon 3 of the leptin gene. Common alleles shared among populations, alleles specific to geographically defined populations, and the homologous alleles in the common and pygmy chimpanzee, the gorilla and the orangutan, were sequenced to define the allelic variation at the nucleotide level. These data reveal a common set of alleles shared among world populations, presumed to have arisen from a great ape ancestral allele prior to the divergence of the major geographical subdivisions of the human population, a subset of alleles specific to populations of African ancestry and a second set of alleles that arose by tandem duplication of the core repeat unit following the separation of African and non-African populations. These findings emphasize the complex evolutionary history of this locus and raise cautions about the pooling of alleles at this locus in association studies.