A SNP in the ABCC11 gene is the determinant of human earwax type
A SNP in the ABCC11 gene is the determinant of human earwax type
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DOI：
10.1038/ng1733
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发表时间：
2006-03-01
期刊：
影响因子：
30.8
通讯作者：
Niikawa, N
中科院分区：
文献类型：
--
作者：
Yoshiura, K;Kinoshita, A;Niikawa, N
人的耳垢分为干耳垢和湿耳垢。干耳垢在东亚人中很常见，而湿耳垢在其他人群中很常见。在这里，我们发现ABCC 11基因中的SNP 538 G-> A（rs 17822931）负责决定耳垢类型。AA基因型对应干耳垢型，GA和GG基因型对应湿耳垢型。在少数亚洲血统的个体中也发现了ABCC 11外显子29的27-bp缺失。功能测定表明，具有等位基因A的细胞显示出比具有等位基因G的细胞更低的cGMP排泄活性。等位基因A的频率显示了南北和东西向下的地理梯度;在世界范围内，它是最高的中国人和韩国人，和一个共同的干型单倍型是保留在各民族人群。这表明等位基因A起源于东北亚，随后传播到世界各地。538 G-> A SNP是决定可见遗传性状的DNA多态性的第一个例子。
Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Here we show that a SNP, 538G -> A (rs17822931), in the ABCC11 gene is responsible for determination of earwax type. The AA genotype corresponds to dry earwax, and GA and GG to wet type. A 27-bp deletion in ABCC11 exon 29 was also found in a few individuals of Asian ancestry. A functional assay demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. The allele A frequency shows a north-south and east-west downward geographical gradient; worldwide, it is highest in Chinese and Koreans, and a common dry-type haplotype is retained among various ethnic populations. These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G -> A SNP is the first example of DNA polymorphism determining a visible genetic trait.