Document Detail

Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients.
MedLine Citation:
PMID:  20045993     Owner:  NLM     Status:  MEDLINE    
ATP7A and ATP7B are involved in cellular resistance to platinum compounds such as cisplatin. By sequencing ATP7A, 38 genetic variations, including 30 novel ones were detected from 203 Japanese cancer patients. Of these, seven nonsynonymous variations were found: novel 1030A>G (R344G), 2111A>G (Q704R), 2200C>A (Q734K), 2948C>T (T983M) and 3112G>A (V1038I) at 0.004 frequencies and known 2299G>C (V767L) and 4390A>G (I1464V) at 0.351 and 0.075 frequencies, respectively. Regarding ATP7B, 28 novel and 33 known genetic variations were detected including 13 nonsynonymous ones: novel 1258A>G (M420V), 1426G>A (A476T), and 2401A>C (T801P) were found at 0.002, 0.005, and 0.002, respectively and known 1216G>T (A406S), 1366G>C (V456L), 2495A>G (K832R), 2785A>G (I929V), 2855G>A (R952K), 2871delC (P957PfsX9), 3419T>C (V1140A), 3836A>G (D1279G), 3886G>A (D1296N) and 3889G>A (V1297I) at 0.483, 0.463, 0.387, 0.005, 0.384, 0.005, 0.387, 0.002, 0.012, and 0.015 frequencies, respectively. Linkage disequilibrium between detected variations was also analyzed. Our results would provide fundamental and useful information for genotyping ATP7A and ATP7B in the Japanese and probably other Asian populations.
Hiromi Fukushima-Uesaka; Yoshiro Saito; Keiko Maekawa; Kouichi Kurose; Emiko Sugiyama; Noriko Katori; Nahoko Kaniwa; Ryuichi Hasegawa; Tetsuya Hamaguchi; Takako Eguchi-Nakajima; Ken Kato; Yasuhide Yamada; Yasuhiro Shimada; Teruhiko Yoshida; Noboru Yamamoto; Hiroshi Nokihara; Hideo Kunitoh; Yuichiro Ohe; Tomohide Tamura; Takashi Ura; Miyuki Saito; Kei Muro; Toshihiko Doi; Nozomu Fuse; Takayuki Yoshino; Atsushi Ohtsu; Nagahiro Saijo; Yasuhiro Matsumura; Haruhiro Okuda; Jun-ichi Sawada
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Drug metabolism and pharmacokinetics     Volume:  24     ISSN:  1880-0920     ISO Abbreviation:  Drug Metab. Pharmacokinet.     Publication Date:  2009  
Date Detail:
Created Date:  2010-01-04     Completed Date:  2010-04-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101164773     Medline TA:  Drug Metab Pharmacokinet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  565-74     Citation Subset:  IM    
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo 158-8501, Japan.
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MeSH Terms
5' Untranslated Regions / genetics
Adenosine Triphosphatases / genetics*
Amino Acid Substitution
Asian Continental Ancestry Group / genetics
Cation Transport Proteins / genetics*
Cisplatin / metabolism
Copper / metabolism*
Equilibrative Nucleoside Transporter 1
Gene Frequency*
Genetic Variation*
Glucuronosyltransferase / genetics
Inuits / genetics
Linkage Disequilibrium
Membrane Transport Proteins / genetics,  metabolism
Molecular Sequence Data
Platinum / metabolism*
Polymorphism, Genetic
Polymorphism, Single Nucleotide / genetics*
Tandem Repeat Sequences / genetics
Reg. No./Substance:
0/5' Untranslated Regions; 0/Cation Transport Proteins; 0/Equilibrative Nucleoside Transporter 1; 0/Membrane Transport Proteins; 15663-27-1/Cisplatin; 7440-06-4/Platinum; 7440-50-8/Copper; EC; EC 3.6.1.-/Adenosine Triphosphatases; EC protein, human; EC disease protein

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