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

  title={A SNP in the ABCC11 gene is the determinant of human earwax type},
  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 Vladimir A Saenko and Gabit K. Alipov and Ichiro Sekine and Kazuki Komatsu and Haruo Takahashi and Mitsuko Nakashima and Nadiya Sosonkina and Christophe K. Mapendano 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 Jeffery C Murray and Susumu Saito and Yusuke Nakamura and Norio Niikawa},
  journal={Nature Genetics},
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… CONTINUE READING

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