Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder‐Haplotype Analysis
Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder‐Haplotype Analysis
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DOI：
10.1111/j.1469-1809.2006.00261.x
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发表时间：
2006-11
影响因子：
1.9
通讯作者：
I. Yuasa;K. Umetsu;S. Harihara;A. Kido;A. Miyoshi;N. Saitou;B. Dashnyam;F. Jin;G. Lucotte
中科院分区：
文献类型：
--
作者：
I. Yuasa;K. Umetsu;S. Harihara;A. Kido;A. Miyoshi;N. Saitou;B. Dashnyam;F. Jin;G. Lucotte
膜相关转运蛋白（MATP）在黑色素合成中起重要作用。在编码MATP的SLC 45 A2基因中的L374 F突变已被认为与主要人群中的肤色相关。在这项研究中，更详细的F374等位基因的分布进行了调查，在1649无关的受试者从13个欧亚人口和一个非洲人口。德国人的等位基因频率最高（0.965）;法国人和意大利人的频率稍低;土耳其人的频率居中（0.615）。来自南亚的印度人和孟加拉人的频率较低（分别为0.147和0.059）。在东亚和东南亚的一些人群中也发现了F374等位基因，并用混合物解释了这一点。单倍型分析显示，德国人的单倍型多样性比日本人低得多，并表明L374 F突变在高加索人的祖先中只发生过一次。F374等位基因及其单倍型分布的巨大差异表明，该等位基因可能是高加索人群色素减退的重要因素。
The membrane‐associated transporter protein (MATP) plays an important role in melanin synthesis. The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations. In this study more detailed distribution of the F374 allele was investigated in 1649 unrelated subjects from 13 Eurasian populations and one African population. The highest allele frequency was observed in Germans (0.965); French and Italians showed somewhat lower frequencies; and Turks had an intermediate value (0.615). Indians and Bangladeshis from South Asia were characterized by low frequencies (0.147 and 0.059, respectively). We also found the F374 allele in some East and Southeast Asian populations, and explained this by admixture. Haplotype analysis revealed that the haplotype diversity was much lower in Germans than in Japanese, and suggest that the L374F mutation occurred only once in the ancestry of Caucasians. The large differences in distribution of the F374 allele and its haplotypes suggest that this allele may be an important factor in hypopigmentation in Caucasian populations.