A SNP in the ABCC11 gene is the determinant of human earwax type.
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.
Yoshiura
Koh-ichiro
K
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. kyoshi@net.nagasaki-u.ac.jp
Kinoshita
Akira
A
Ishida
Takafumi
T
Ninokata
Aya
A
Ishikawa
Toshihisa
T
Kaname
Tadashi
T
Bannai
Makoto
M
Tokunaga
Katsushi
K
Sonoda
Shunro
S
Komaki
Ryoichi
R
Ihara
Makoto
M
Saenko
Vladimir A
VA
Alipov
Gabit K
GK
Sekine
Ichiro
I
Komatsu
Kazuki
K
Takahashi
Haruo
H
Nakashima
Mitsuko
M
Sosonkina
Nadiya
N
Mapendano
Christophe K
CK
Ghadami
Mohsen
M
Nomura
Masayo
M
Liang
De-Sheng
DS
Miwa
Nobutomo
N
Kim
Dae-Kwang
DK
Garidkhuu
Ariuntuul
A
Natsume
Nagato
N
Ohta
Tohru
T
Tomita
Hiroaki
H
Kaneko
Akira
A
Kikuchi
Mihoko
M
Russomando
Graciela
G
Hirayama
Kenji
K
Ishibashi
Minaka
M
Takahashi
Aya
A
Saitou
Naruya
N
Murray
Jeffery C
JC
Saito
Susumu
S
Nakamura
Yusuke
Y
Niikawa
Norio
N
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
C435500:ABCC11 protein, human; D018528:ATP-Binding Cassette Transporters; D005819:Genetic Markers