Genetic Variations and Haplotype Structures of the ABC Transporter Gene ABCC1 in a Japanese Population

Drug Metabolism and Pharmacokinetics

Volumn 22, Issue 1, 2007, Pages 48-60

  Fukushima Uesaka, Hiromi ^{a,b,c,d,e,f,g}   Saito, Yoshiro ^{a,b,c,d,e,f,g}   Tohkin, Masahiro ^{a,b,c,d,e,f,g}   Maekawa, Keiko ^{a,b,c,d,e,f,g}   Hasegawa, Ryuichi ^{a,b,c,d,e,f,g}   Kawamoto, Manabu ^{a,b,c,d,e,f,g}   Kamatani, Naoyuki ^{a,b,c,d,e,f,g}   Suzuki, Kazuko ^{a,b,c,d,e,f,g}   Yanagawa, Tatsuo ^{a,b,c,d,e,f,g}   Kajio, Hiroshi ^{a,b,c,d,e,f,g}   Kuzuya, Nobuaki ^{a,b,c,d,e,f,g}   Yasuda, Kazuki ^{a,b,c,d,e,f,g}   Sawada, Jun ichi ^{a,b,c,d,e,f,g}  

^a Project Team for Pharmacogenetics   (Japan)

^b National Institute of Health Sciences   (Japan)

^c NATIONAL INSTITUTE OF HEALTH SCIENCES   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e Nerima General Hospital   (Japan)

^f National Center for Global Health and Medicine   (Japan)

^g NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

Author keywords

ABCC1; amino acid change; genetic variation; haplotype; haplotype tagging SNP

Indexed keywords

GENOMIC DNA; MULTIDRUG RESISTANCE ASSOCIATED PROTEIN 1; DNA; MULTIDRUG RESISTANCE PROTEIN; MULTIDRUG RESISTANCE PROTEIN 1; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 1; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; DNA FLANKING REGION; EXON; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIATION; HAPLOTYPE; HUMAN; INTRON; JAPANESE (PEOPLE); NUCLEOTIDE SEQUENCE; PHARMACOGENETICS; SINGLE NUCLEOTIDE POLYMORPHISM; DIABETES MELLITUS; GENETIC VARIABILITY; GENETICS; JAPAN; MOLECULAR GENETICS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

3' UNTRANSLATED REGIONS; 5' UNTRANSLATED REGIONS; DIABETES MELLITUS; DNA; EXONS; HAPLOTYPES; HUMANS; INTRONS; JAPAN; LINKAGE DISEQUILIBRIUM; MOLECULAR SEQUENCE DATA; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; VARIATION (GENETICS);

EID: 34047276125     PISSN: 13474367     EISSN: 18800920     Source Type: Journal    
DOI: 10.2133/dmpk.22.48     Document Type: Article

References (25)

1. 1) Leslie, E.M., Deeley, R.G., Cole, S.P., Toxicological relevance of the multidrug resistance protein 1, MRP1 (ABCC1) and related transporters. Toxicology 167 (2001), 3–23.
2. 2) Leslie, E.M., Deeley, R.G., Cole, S.P., Multidrug resistance proteins: role of P-glycoprotein, MRP1, MRP2, and BCRP (ABCG2) in tissue defense. Toxicol. Appl. Pharmacol. 204 (2005), 216–237.
3. 3) Cole, S.P., Bhardwaj, G., Gerlach, J.H., Mackie, J.E., Grant, C.E., Almquist, K.C., Stewart, A.J., Kurz, E.U., Duncan, A.M., Deeley, R.G., Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line. Science 258 (1992), 1650–1654.
4. 4) Grant, C.E., Kurz, E.U., Cole, S.P., Deeley, R.G., Analysis of the intron-exon organization of the human multidrug-resistance protein gene (MRP) and alternative splicing of its mRNA. Genomics 45 (1997), 368–378.
5. 5) Flens, M.J., Zaman, G.J., van der Valk, P., Izquierdo, M.A., Schroeijers, A.B., Scheffer, G.L., van der Groep, P., de Haas, M., Meijer, C.J., Scheper, R.J., Tissue distribution of the multidrug resistance protein. Am. J. Pathol. 148 (1996), 1237–1247.
6. 6) Payen, L., Delugin, L., Courtois, A., Trinquart, Y., Guillouzo, A., Fardel, O., The sulphonylurea glibenclamide inhibits multidrug resistance protein (MRP1) activity in human lung cancer cells. Br. J. Pharmacol. 132 (2001), 778–784.
7. 7) Le Saux, O., Urban, Z., Tschuch, C., Csiszar, K., Bacchelli, B., Quaglino, D., Pasquali-Ronchetti, I., Pope, F.M., Richards, Α., Terry, S., Bercovitch, L., de Paepe, Α., Boyd, C.D., Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat. Genet. 25 (2000), 223–227.
8. 8) Perdu, J., Germain, D.P., Identification of novel polymorphisms in the pMS and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum. Hum. Mutat. 17 (2001), 74–75.
9. 9) Conrad, S., Kauffmann, H.M., Ito, K., Deeley, R.G., Cole, S.P., Schrenk, D., Identification of human multidrug resistance protein 1 (MRP1) mutations and characterization of a G671V substitution. J. Hum. Genet 46 (2001), 656–663.
10. 10) Conrad, S., Kauffmann, H.M., Ito, K., Leslie, E.M., Deeley, R.G., Schrenk, D., Cole, S.P., A naturally occurring mutation in MRP1 results in a selective decrease in organic anion transport and in increased doxorubicin resistance. Pharmacogenetics 12 (2000), 321–330.
11. 11) Ito, S., Ieiri, I., Tanabe, M., Suzuki, Α., Higuchi, S., Otsubo, K., Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. Pharmacogenetics 11 (2001), 175–184.
12. 12) Letourneau, I.J., Deeley, R.G., Cole, S.P., Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1 /ABCC1). Pharmacogenet. Genomics 15 (2005), 647–657.
13. 13) Judson, R., Stephens, J.C., Windemuth, Α., The predictive power of haplotypes in clinical response. Pharmacogenomics 1 (2000), 15–26.
14. 14) Kitamura, Y., Moriguchi, M., Kaneko, H., Morisaki, H., Morisaki, T., Toyama, K., Kamatani, N., Determination of probability distribution of diplotype configuration (diplotype distribution) for each subject from genotypic data using the EM algorithm. Ann. Hum. Genet. 66 (2002), 183–193.
15. 15) Stephens, M., Smith, N., Donnelly, P., A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68 (2001), 978–989.
16. 16) Stephens, M., Donnelly, P., A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet. 73 (2003), 1162–1169.
17. 17) Ren, X.Q., Furukawa, T., Aoki, S., Nakajima, T., Sumizawa, T., Haraguchi, M., Chen, Z.S., Kobayashi, M., Akiyama, S., Glutathione-dependent binding of a photoaffinity analog of agosterol A to the C-terminal half of human multidrug resistance protein. J. Biol. Chem. 276 (2001), 23197–23206.
18. 18) Wu, P., Oleschuk, C.J., Mao, Q., Keller, B.O., Deeley, R.G., Cole, S.P., Analysis of human multidrug resistance protein 1 (ABCC1) by matrix-assisted laser desorption ionization/time of flight mass spectrometry: toward identification of leukotriene C4 binding sites. Mol. Pharmacol. 68 (2005), 1455–1465.
19. 19) Bakos, E., Evers, R., Calenda, G., Tusnady, G.E., Szakacs, G., Varadi, A., Sarkadi, B., Characterization of the amino-terminal regions in the human multidrug resistance protein (MRP1). J. Cell Sci. 113 (2000), 4451–4461.
20. 20) Haimeur, Α., Conseil, G., Deeley, R.G., Cole, S.P., Mutations of charged amino acids in or near the transmembrane helices of the second membrane spanning domain differentially affect the substrate specificity and transport activity of the multidrug resistance protein MRP1 (ABCC1). Mol. Pharmacol. 65 (2004), 1375–1385.
21. 21) Wang, H., Hao, B., Zhou, K., Chen, X., Wu, S., Zhou, G., Zhu, Y., He, F., Linkage disequilibrium and haplotype architecture for two ABC transporter genes (ABCC1 and ABCG2) in Chinese population: implications for pharmacogenomic association studies. Ann. Hum. Genet. 68 (2004), 563–573.
22. 22) Nicolis, E., Pasetto, M., Cigana, C., Pradal, U., Assael, B.M., Melotti, P., The GCC repeat length in the S'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis. BMC Med. Genet., 7, 2006, 7.
23. 23) Wang, Z., Sew, P.H., Ambrose, H., Ryan, S., Chong, S.S., Lee, E.J., Lee, C.G., Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region. BMC Genomics, 7, 2006, 111.
24. 24) Oselin, K., Mrozikiewicz, P.M., Gaikovitch, E., Pahkla, R., Roots, I., Frequency of MRP1 genetic polymorphisms and their functional significance in Caucasians: detection of a novel mutation G816A in the human MRP1 gene. Eur. J. Clin. Pharmacol. 59 (2003), 347–350.
25. 25) Saito, S., Iida, Α., Sekine, Α., Miura, Y., Ogawa, C., Kawauchi, S., Higuchi, S., Nakamura, Y., Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR). J. Hum. Genet. 47 (2002), 147–171.