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

Koh-ichiro Yoshiura; Akira Kinoshita; Takafumi Ishida; Aya Ninokata; Toshihisa Ishikawa; Tadashi Kaname; Makoto Bannai; Katsushi Tokunaga; Shunro Sonoda; Ryoichi Komaki; Makoto Ihara; Vladimir A Saenko; Gabit K Alipov; Ichiro Sekine; Kazuki Komatsu; Haruo Takahashi; Mitsuko Nakashima; Nadiya Sosonkina; Christophe K Mapendano; Mohsen Ghadami; Masayo Nomura; De-Sheng Liang; Nobutomo Miwa; Dae-Kwang Kim; Ariuntuul Garidkhuu; Nagato Natsume; Tohru Ohta; Hiroaki Tomita; Akira Kaneko; Mihoko Kikuchi; Graciela Russomando; Kenji Hirayama; Minaka Ishibashi; Aya Takahashi; Naruya Saitou; Jeffery C Murray; Susumu Saito; Yusuke Nakamura; Norio Niikawa

doi:10.1038/ng1733

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

Koh-ichiro Yoshiura, Akira Kinoshita, Takafumi Ishida, Aya Ninokata, Toshihisa Ishikawa, Tadashi Kaname, Makoto Bannai, Katsushi Tokunaga, Shunro Sonoda, Ryoichi Komaki, Makoto Ihara, Vladimir A Saenko, Gabit K Alipov, Ichiro Sekine, Kazuki Komatsu, Haruo Takahashi, Mitsuko Nakashima, Nadiya Sosonkina, Christophe K Mapendano, Mohsen GhadamiMasayo Nomura, De-Sheng Liang, Nobutomo Miwa, Dae-Kwang Kim, Ariuntuul Garidkhuu, Nagato Natsume, Tohru Ohta, Hiroaki Tomita, Akira Kaneko, Mihoko Kikuchi, Graciela Russomando, Kenji Hirayama, Minaka Ishibashi, Aya Takahashi, Naruya Saitou, Jeffery C Murray, Susumu Saito, Yusuke Nakamura, Norio Niikawa

Research output: Contribution to journal › Journal article › Research › peer-review

211 Citations (Scopus)

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.

Original language	English
Journal	Nature Genetics
Volume	38
Issue number	3
Pages (from-to)	324-30
Number of pages	7
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng1733
Publication status	Published - 2006
Externally published	Yes

Keywords

ATP-Binding Cassette Transporters/genetics
Case-Control Studies
Cerumen/physiology
Chromosome Mapping
Continental Population Groups/genetics
Gene Frequency
Genetic Markers
Genotype
Humans
Molecular Sequence Data
Polymorphism, Genetic
Polymorphism, Single Nucleotide

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Yoshiura, K., Kinoshita, A., Ishida, T., Ninokata, A., Ishikawa, T., Kaname, T., Bannai, M., Tokunaga, K., Sonoda, S., Komaki, R., Ihara, M., Saenko, V. A., Alipov, G. K., Sekine, I., Komatsu, K., Takahashi, H., Nakashima, M., Sosonkina, N., Mapendano, C. K., ... Niikawa, N. (2006). A SNP in the ABCC11 gene is the determinant of human earwax type. Nature Genetics, 38(3), 324-30. https://doi.org/10.1038/ng1733

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title = "A SNP in the ABCC11 gene is the determinant of human earwax type",

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.",

keywords = "ATP-Binding Cassette Transporters/genetics, Case-Control Studies, Cerumen/physiology, Chromosome Mapping, Continental Population Groups/genetics, Gene Frequency, Genetic Markers, Genotype, Humans, Molecular Sequence Data, Polymorphism, Genetic, Polymorphism, Single Nucleotide",

author = "Koh-ichiro Yoshiura and Akira Kinoshita and Takafumi Ishida and Aya Ninokata and Toshihisa Ishikawa and Tadashi Kaname and Makoto Bannai and Katsushi Tokunaga and Shunro Sonoda and Ryoichi Komaki and Makoto Ihara and Saenko, {Vladimir A} and Alipov, {Gabit K} and Ichiro Sekine and Kazuki Komatsu and Haruo Takahashi and Mitsuko Nakashima and Nadiya Sosonkina and Mapendano, {Christophe K} and Mohsen Ghadami and Masayo Nomura and De-Sheng Liang and Nobutomo Miwa and Dae-Kwang Kim and Ariuntuul Garidkhuu and Nagato Natsume and Tohru Ohta and Hiroaki Tomita and Akira Kaneko and Mihoko Kikuchi and Graciela Russomando and Kenji Hirayama and Minaka Ishibashi and Aya Takahashi and Naruya Saitou and Murray, {Jeffery C} and Susumu Saito and Yusuke Nakamura and Norio Niikawa",

year = "2006",

doi = "10.1038/ng1733",

language = "English",

volume = "38",

pages = "324--30",

journal = "Nature Genetics",

issn = "1061-4036",

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number = "3",

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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, D-S, Miwa, N, Kim, D-K, 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 2006, 'A SNP in the ABCC11 gene is the determinant of human earwax type', Nature Genetics, vol. 38, no. 3, pp. 324-30. https://doi.org/10.1038/ng1733

TY - JOUR

T1 - A SNP in the ABCC11 gene is the determinant of human earwax type

AU - Yoshiura, Koh-ichiro

AU - Kinoshita, Akira

AU - Ishida, Takafumi

AU - Ninokata, Aya

AU - Ishikawa, Toshihisa

AU - Kaname, Tadashi

AU - Bannai, Makoto

AU - Tokunaga, Katsushi

AU - Sonoda, Shunro

AU - Komaki, Ryoichi

AU - Ihara, Makoto

AU - Saenko, Vladimir A

AU - Alipov, Gabit K

AU - Sekine, Ichiro

AU - Komatsu, Kazuki

AU - Takahashi, Haruo

AU - Nakashima, Mitsuko

AU - Sosonkina, Nadiya

AU - Mapendano, Christophe K

AU - Ghadami, Mohsen

AU - Nomura, Masayo

AU - Liang, De-Sheng

AU - Miwa, Nobutomo

AU - Kim, Dae-Kwang

AU - Garidkhuu, Ariuntuul

AU - Natsume, Nagato

AU - Ohta, Tohru

AU - Tomita, Hiroaki

AU - Kaneko, Akira

AU - Kikuchi, Mihoko

AU - Russomando, Graciela

AU - Hirayama, Kenji

AU - Ishibashi, Minaka

AU - Takahashi, Aya

AU - Saitou, Naruya

AU - Murray, Jeffery C

AU - Saito, Susumu

AU - Nakamura, Yusuke

AU - Niikawa, Norio

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

KW - ATP-Binding Cassette Transporters/genetics

KW - Case-Control Studies

KW - Cerumen/physiology

KW - Chromosome Mapping

KW - Continental Population Groups/genetics

KW - Gene Frequency

KW - Genetic Markers

KW - Genotype

KW - Humans

KW - Molecular Sequence Data

KW - Polymorphism, Genetic

KW - Polymorphism, Single Nucleotide

U2 - 10.1038/ng1733

DO - 10.1038/ng1733

M3 - Journal article

C2 - 16444273

SN - 1061-4036

VL - 38

SP - 324

EP - 330

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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

Abstract

Keywords

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