title: Thirty novel genetic variations in the SLC29A1 gene encoding human equilibrative nucleoside transporter 1 (hENT1).
abstract: Thirty-nine genetic variations, including thirty novel ones, were found in the human SLC29A1 gene, which encodes equilibrative nucleoside transporter 1, from 256 Japanese cancer patients administered gemcitabine. The found novel variations included -8,166G>A, -81,10A>G, -7,947G>A, -7,789T>C, -5,595G>A, -3,803_-3,783delTCGGGGAGGTGGCAGTGGGCG, -3,548G>C, -3,414G>A, -1355T>C, -34C>G, IVS1+141G>A, IVS1+260C>T, IVS1-82C>T, 177C>G, IVS3-6C>T, 564C>T, IVS8+44T>C, IVS8+90T>C, IVS8+97T>C, IVS8+131C>T, IVS8+169G>A, 933T>C, 954C>T, IVS11-52G>C, IVS11-46G>A, 1,288G>A, 1,641C>G, 1,703_1,704delGT, 1812C>T, and 1861C>T. The frequencies were 0.051 for IVS8+169G>A, 0.012 for -7,947G>A, 0.006 for IVS1+141G>A and 1,703_1,704delGT, 0.004 for -8,166G>A, -8,110A>G, -3,548G>C, -1,355T>C, -34C>G, IVS8+44T>C, and 1,812C>T, and 0.002 for the other 19 variations. Among them, 177C>G and 1,288G>A resulted in amino acid substitutions Asp59Glu and Ala430Thr, respectively. Using the detected polymorphisms, linkage disequilibrium analysis was performed, and 28 haplotypes were identified or inferred. Our findings would provide fundamental and useful information for genotyping SLC29A1 in the Japanese and probably other Asian populations.
authors.affiliation: Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo 158-8501, Japan. kim@nihs.go.jp
authors.forename: Su-Ryang
authors.initials: SR
authors.lastname: Kim
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Saito
authors.forename: Keiko
authors.initials: K
authors.lastname: Maekawa
authors.forename: Emiko
authors.initials: E
authors.lastname: Sugiyama
authors.forename: Nahoko
authors.initials: N
authors.lastname: Kaniwa
authors.forename: Hideki
authors.initials: H
authors.lastname: Ueno
authors.forename: Takuji
authors.initials: T
authors.lastname: Okusaka
authors.forename: Chigusa
authors.initials: C
authors.lastname: Morizane
authors.forename: Noboru
authors.initials: N
authors.lastname: Yamamoto
authors.forename: Masafumi
authors.initials: M
authors.lastname: Ikeda
authors.forename: Teruhiko
authors.initials: T
authors.lastname: Yoshida
authors.forename: Hironobu
authors.initials: H
authors.lastname: Minami
authors.forename: Junji
authors.initials: J
authors.lastname: Furuse
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ishii
authors.forename: Nagahiro
authors.initials: N
authors.lastname: Saijo
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
authors.forename: Shogo
authors.initials: S
authors.lastname: Ozawa
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Sawada
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D000964:Antimetabolites, Antineoplastic / Q000008:administration & dosage / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D003841:Deoxycytidine / Q000008:administration & dosage / Q000031:analogs & derivatives / Q000627:therapeutic use; D033721:Equilibrative Nucleoside Transporter 1 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D009369:Neoplasms / Q000188:drug therapy / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D000093542:Gemcitabine
chemical_list: D020121:5' Untranslated Regions; D000964:Antimetabolites, Antineoplastic; D033721:Equilibrative Nucleoside Transporter 1; C438649:SLC29A1 protein, human; D003841:Deoxycytidine; D000093542:Gemcitabine