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PMID: 16444273 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

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

Nature genetics ·Vol. 38 ·No. 3 ·2006-03-00 ·Pages 324-30

Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N

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.

MeSH Terms
ATP-Binding Cassette Transporters/genetics Case-Control Studies Cerumen/physiology Chromosome Mapping Gene Frequency Genetic Markers Genotype Humans Molecular Sequence Data Polymorphism, Genetic Polymorphism, Single Nucleotide Racial Groups/genetics
Chemicals
ABCC11 protein, human ATP-Binding Cassette Transporters Genetic Markers
Authors & Affiliations
39 authors, click to expand affiliations / ORCID
Yoshiura Koh-ichiro
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kyoshi@net.nagasaki-u.ac.jp
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
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
Published
2006-03-00
Epub
2006-00-29
Pages
324-30
Language
English
Region
United States
NLM ID
9216904
Subset
IM
Databases
GENBANK
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