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- Title
A SNP in the ABCC11 gene is the determinant of human earwax type.
- Authors
Yoshiura, Koh-ichiro; Kinoshita, Akira; Ishida, Takafumi; Ninokata, Aya; Ishikawa, Toshihisa; Kaname, Tadashi; Bannai, Makoto; Tokunaga, Katsushi; Sonoda, Shunro; Komaki, Ryoichi; Ihara, Makoto; Saenko, Vladimir A; Alipov, Gabit K; Sekine, Ichiro; Komatsu, Kazuki; Takahashi, Haruo; Nakashima, Mitsuko; Sosonkina, Nadiya; Mapendano, Christophe K; Ghadami, Mohsen; Nomura, Masayo; Liang, De-Sheng; Miwa, Nobutomo; Kim, Dae-Kwang; Garidkhuu, Ariuntuul; Natsume, Nagato; Ohta, Tohru; Tomita, Hiroaki; Kaneko, Akira; Kikuchi, Mihoko; Russomando, Graciela; Hirayama, Kenji; Ishibashi, Minaka; Takahashi, Aya; Saitou, Naruya; Murray, Jeffery C; Saito, Susumu; Nakamura, Yusuke; Niikawa, Norio
- 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 --> 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.
- Publication
Nature genetics, 2006, Vol 38, Issue 3, p324
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1733