title: Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population.
abstract: The bile salt export pump (BSEP) encoded by ABCB11 is located in the canalicular membrane of hepatocytes and mediates the secretion of numerous conjugated bile salts into the bile canaliculus. In this study, 28 ABCB11 exons (including non-coding exon 1) and their flanking introns were comprehensively screened for genetic variations in 120 Japanese subjects. Fifty-nine genetic variations, including 19 novel ones, were found: 14 in the coding exons (6 nonsynonymous and 8 synonymous variations), 4 in the 3'-UTR, and 41 in the introns. Three novel nonsynonymous variations, 361C>A (Gln121Lys), 667C>T (Arg223Cys), and 1460G>T (Arg487Leu), were found as heterozygotes and at 0.004 allele frequencies. These data provide fundamental and useful information for genotyping ABCB11 in the Japanese and probably other Asian populations.
authors: Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
authors: Su-Ryang
authors: SR
authors: Kim
authors: Yoshiro
authors: Y
authors: Saito
authors: Masaya
authors: M
authors: Itoda
authors: Keiko
authors: K
authors: Maekawa
authors: Manabu
authors: M
authors: Kawamoto
authors: Naoyuki
authors: N
authors: Kamatani
authors: Shogo
authors: S
authors: Ozawa
authors: Jun-ichi
authors: J
authors: Sawada
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D007564:Japan; D020641:Polymorphism, Single Nucleotide
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters