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A SNP in the ABCC11 gene is the determinant of human earwax type

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Affiliated Author(s)
김대광
Alternative Author(s)
Kim, Dae Kwang
Journal Title
Nature Genetics
ISSN
1061-4036
Issued Date
2006
Abstract
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 right arrow 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 right arrow A SNP is the first example of DNA polymorphism determining a visible genetic trait.
Department
Dept. of Medical Genetics (의학유전학)
Publisher
School of Medicine
Citation
Nagato Natsume et al. (2006). A SNP in the ABCC11 gene is the determinant of human earwax type. Nature Genetics, 38(3), 324–330. doi: 10.1038/ng1733
Type
Article
ISSN
1061-4036
DOI
10.1038/ng1733
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/33472
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Medical Genetics (의학유전학)
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