High levels of molecular polymorphism at the KIR2DL4 locus in French and Congolese populations: Impact for anthropology and clinical studies
High levels of molecular polymorphism at the KIR2DL4 locus in French and Congolese populations: Impact for anthropology and clinical studies
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DOI：
10.1016/j.humimm.2009.08.002
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发表时间：
2009-11-01
期刊：
影响因子：
2.7
通讯作者：
Picard, Christophe
中科院分区：
文献类型：
--
作者：
Buhler, Stephane;Di Cristofaro, Julie;Picard, Christophe
为了研究KIR2DL4的分子多态性，对49名法国人和52名刚果人进行了克隆测序。这两个群体表现出较高水平的KIR2DL4遗传多样性，可能受自然选择的影响。法国人最常见的等位基因(即*00801和*00802，累积频率类似于43%)在刚果人中不同(即*00103，47%)。在后一个群体中，发现了四个新的等位基因变异，其中三个包含非同义替换，导致蛋白质胞外和胞内区域的氨基酸变化。KIR2DL4的表达模式与第7外显子9和10多聚腺嘌呤多态(即9A和10A型等位基因)密切相关。法国人以9A等位基因为主(62%)，刚果人以10A等位基因为主(72%)，提示KIR2DL4基因多态可能受到不同环境和致病背景的影响。我们认为KIR2DL4可能是人类学研究的一个很好的候选基因。此外，其内在变异性的发现揭示了人类群体在免疫功能方面的潜在差异。(C)2009年美国组织相容性和免疫遗传学学会。爱思唯尔公司出版，版权所有。
To characterize KIR2DL4 molecular polymorphism, a cloning-sequencing protocol was performed in 49 French and 52 Teke Congolese individuals. These two Populations exhibited high levels of genetic diversity for KIR2DL4, possibly under the influence of natural selection. The most frequent alleles in French individuals (i.e., *00801 and *00802 with a Cumulated frequency of similar to 43%) were not the same in Congolese individuals (i.e., *00103 at 47%). In the latter population, four new allelic variants were detected, three of them harboring nonsynonymous substitutions leading to amino acid changes in the extracellular and cytoplasmic domains of the protein. Expression patterns of KIR2DL4 were tightly linked with 9 and 10 poly-adenine polymorphism in exon 7 (i.e., 9A and 10A type alleles). French individuals exhibited a majority of 9A alleles (62%), whereas Congolese individuals had a dominant subset of 10A alleles (72%), suggesting that KIR2DL4 polymorphism could be under the influence of various environmental and pathogenic backgrounds. We conclude that KIR2DL4 might be a good candidate to study for anthropology. In addition, the discovery of its intrinsic variability is shedding light on potential differences among human populations in relation to immunologic functions. (C) 2009 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.