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 › Article › peer-review

193 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
Pages (from-to)	324-330
Number of pages	7
Journal	Nature Genetics
Volume	38
Issue number	3
DOIs	https://doi.org/10.1038/ng1733
Publication status	Published - 2006 Mar
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Yoshiura, K. I., 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), 324-330. https://doi.org/10.1038/ng1733

Yoshiura, KI, 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 2006, 'A SNP in the ABCC11 gene is the determinant of human earwax type', Nature Genetics, vol. 38, no. 3, pp. 324-330. 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.",

author = "Yoshiura, {Koh Ichiro} 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 Liang, {De Sheng} and Nobutomo Miwa and Kim, {Dae Kwang} 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",

note = "Funding Information: We are grateful to all volunteers, especially to Nagasaki University Administration Officers, for their participation in this study and are grateful to S. Horai, P. Duanchang, S. Pookajorn, A. Soemantri, W. Settheetham-Ishida, P.G. Babu, R. Kimura, P.N. Tongol-Rivera, K. Tajim, L.H. Sulaiman and K. Na-Bangchang for assistance in collecting samples. We also thank N. Yanai and Y. Noguchi for their technical assistance and S.M. Kennedy for correction of the manuscript. This study was supported in part by CREST from the Japan Science and Technology Agency (JST) and Grants-in-Aid for Scientific Research (Category S, No. 13854024; Priority Area {\textquoteleft}Applied Genomics{\textquoteright} No. 17019055; Category C, No. 17590288) from the Ministry of Education, Culture, Sports, Science and Technology of Japan.",

year = "2006",

month = mar,

doi = "10.1038/ng1733",

language = "English",

volume = "38",

pages = "324--330",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "3",

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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

N1 - Funding Information: We are grateful to all volunteers, especially to Nagasaki University Administration Officers, for their participation in this study and are grateful to S. Horai, P. Duanchang, S. Pookajorn, A. Soemantri, W. Settheetham-Ishida, P.G. Babu, R. Kimura, P.N. Tongol-Rivera, K. Tajim, L.H. Sulaiman and K. Na-Bangchang for assistance in collecting samples. We also thank N. Yanai and Y. Noguchi for their technical assistance and S.M. Kennedy for correction of the manuscript. This study was supported in part by CREST from the Japan Science and Technology Agency (JST) and Grants-in-Aid for Scientific Research (Category S, No. 13854024; Priority Area ‘Applied Genomics’ No. 17019055; Category C, No. 17590288) from the Ministry of Education, Culture, Sports, Science and Technology of Japan.

PY - 2006/3

Y1 - 2006/3

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.

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

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