Journal article
A SNP in the ABCC11 gene is the determinant of human earwax type
Nature genetics, Vol.38(3), pp.324-330
03/2006
DOI: 10.1038/ng1733
PMID: 16444273
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.
Details
- Title: Subtitle
- A SNP in the ABCC11 gene is the determinant of human earwax type
- Creators
- Aya Ninokata - Department of Biological Sciences, Graduate School of Science, University of TokyoGraciela Russomando - Departamento de Biologia Molecular, Instituto de Investigaciones en Ciencias de la Salud, Universidad Nacional de AsuncionKoh-ichiro Yoshiura - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and TechnologyChristophe K Mapendano - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and TechnologyNorio Niikawa - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and TechnologySusumu Saito - Laboratory for SNP Analysis, SNP Research Center, The Institute of Physical and Chemical Research (RIKEN)Akira Kaneko - Malaria Research Laboratory, Karolinska University HospitalNaruya Saitou - Division of Population Genetics, National Institute of GeneticsVladimir A Saenko - International Health and Radiation Research, Nagasaki University Graduate School of Biomedical SciencesMakoto Bannai - Department of Human Genetics, Graduate School of Medicine, University of TokyoMihoko Kikuchi - Department of Molecular Immunogenetics, Institute of Tropical Medicine, Nagasaki UniversityJeffery C Murray - Department of Pediatrics, University of IowaNobutomo Miwa - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and TechnologyAriuntuul Garidkhuu - Graduate School of Dentistry, Aichi Gakuin UniversityShunro Sonoda - Research and Development Center, Kagoshima UniversityYusuke Nakamura - Laboratory for SNP Analysis, SNP Research Center, The Institute of Physical and Chemical Research (RIKEN) Human Genome Center, Institute of Medical Science, University of TokyoTohru Ohta - Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Research Institute of Personalized Health Sciences, Health Science University of HokkaidoDe-Sheng Liang - Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South UniversityRyoichi Komaki - Cosmetics Laboratory, Kanebo Cosmetics, IncNagato Natsume - Graduate School of Dentistry, Aichi Gakuin UniversityAya Takahashi - Division of Population Genetics, National Institute of GeneticsKenji Hirayama - Department of Molecular Immunogenetics, Institute of Tropical Medicine, Nagasaki UniversityMakoto Ihara - Department of Radiation Biophysics, Nagasaki University Graduate School of Biomedical SciencesNadiya Sosonkina - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and TechnologyMasayo Nomura - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Department of Dermatology, Nagasaki University Graduate School of Biomedical SciencesHiroaki Tomita - Human Genetics Laboratory, Department of Psychiatry and Human Behavior, University of CaliforniaAkira Kinoshita - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and TechnologyGabit K Alipov - Department of Molecular Pathology, Nagasaki University Graduate School of Biomedical SciencesMitsuko Nakashima - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Department of Plastic and Reconstructive Surgery, Nagasaki University Graduate School of Biomedical SciencesMinaka Ishibashi - Division of Population Genetics, National Institute of GeneticsTakafumi Ishida - Department of Biological Sciences, Graduate School of Science, University of TokyoTadashi Kaname - Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Department of Medical Genetics, University of the Ryukyu School of MedicineToshihisa Ishikawa - Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of TechnologyKazuki Komatsu - Department of Otolaryngology, Nagasaki University Graduate School of Biomedical SciencesDae-Kwang Kim - Department of Anatomy, Hanvit Institute for Medical Genetics, Keimyung University School of MedicineKatsushi Tokunaga - Department of Human Genetics, Graduate School of Medicine, University of TokyoHaruo Takahashi - Department of Otolaryngology, Nagasaki University Graduate School of Biomedical SciencesIchiro Sekine - Department of Molecular Pathology, Nagasaki University Graduate School of Biomedical SciencesMohsen Ghadami - Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.38(3), pp.324-330
- DOI
- 10.1038/ng1733
- PMID
- 16444273
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 03/2006
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025366702771
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