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.
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kyoshi@net.nagasaki-u.ac.jp
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authors.forename: Dae-Kwang
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authors.forename: Tohru
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authors.forename: Graciela
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authors.lastname: Hirayama
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authors.forename: Aya
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authors.forename: Naruya
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authors.forename: Jeffery C
authors.initials: JC
authors.lastname: Murray
authors.forename: Susumu
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authors.lastname: Saito
authors.forename: Yusuke
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mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D016022:Case-Control Studies; D002571:Cerumen / Q000502:physiology*; D002874:Chromosome Mapping; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics
chemical_list: C435500:ABCC11 protein, human; D018528:ATP-Binding Cassette Transporters; D005819:Genetic Markers