Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8

Iida, Aritoshi; Saito, Susumu; Sekine, Akihiro; Mishima, Chihiro; Kitamura, Yuri; Kondo, Kimie; Harigae, Satoko; Osawa, Saori; Nakamura, Yusuke

doi:10.1007/s100380200041

Cited by 112 publications

(66 citation statements)

References 34 publications

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“…It is currently unknown precisely how ABCE1 protein acts in drug resistance. However, a total of six single-nucleotide polymorphisms in ABCE1 gene and 11 variations of other types at ABCE1 gene locus were identified, providing useful information for understanding diseases and investigating responsiveness to drug therapy (47).…”

Section: Other Fields Of Abce1mentioning

confidence: 99%

The biological regulation of ABCE1

2012

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SummaryATP binding cassette E1 (ABCE1) protein, also named RLI or HP68, is one member of ATP binding cassette superfamily. By forming a heterodimer with RNase L, ABCE1 protein inhibits the IFN-depended 2-5A/RNase L system and regulates a broad range of biological functions including viral infection, tumor cell proliferation, and antiapoptosis. As a highly conserved protein, recent studies have mainly focused that ABCE1 protein is involving in the fields of HIV virus capsids assembly and important roles in translation. Our manuscript will review the studies which revealed the biological regulation of ABCE1.

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Section: Other Fields Of Abce1mentioning

confidence: 99%

The biological regulation of ABCE1

2012

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“…(3,12,13) We previously reported that the germ-line mutant allele 3587T>G in MDR1 expresses a nonfunctional P-gp. (14) We also reported variant BCRP SNP cDNAs harboring 421C>A (amino acid substitution Q141K), (15) and this SNP is physiologically important because the pharmacokinetics of diflomotecan, a new camptothecin-derivative anticancer agent, and the risk of adverse reactions, such as gefitinib-induced diarrhea, was affected in patients heterozygous for the A421 allele.…”

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confidence: 99%

Pharmacological interaction with sunitinib is abolished by a germ‐line mutation (1291T>C) of BCRP/ABCG2 gene

et al. 2010

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Sunitinib malate (Sutent, SU11248) is a small-molecule multitargeted tyrosine kinase inhibitor (TKI) used for the treatment of renal cell carcinoma and imatinib-resistant gastrointestinal stromal tumors. Some TKIs can overcome multidrug resistance conferred by ATP-binding cassette transporter, P-glycoprotein (P-gp) ⁄ ABCB1, multidrug resistance-associated protein 1 (MRP1) ⁄ ABCC1, and breast cancer resistance protein (BCRP) ⁄ ABCG2. Here, we analyzed the effects of sunitinib on P-gp and on wild-type and germ-line mutant BCRPs. Sunitinib remarkably reversed BCRP-mediated and partially reversed P-gp-mediated drug resistance in the respective transfectants. The in vitro vesicle transport assay indicated that sunitinib competitively inhibited BCRP-mediated estrone 3-sulfate transport and P-gp-mediated vincristine transport. These inhibitory effects of sunitinib were further analyzed in Q141K-, R482G-, R482S-, and F431L-variant BCRPs. Intriguingly, the F431L-variant BCRP, which is expressed by a germ-line mutant allele 1291T>C, was almost insensitive to both sunitinib-and fumitremorgin C (FTC)-mediated inhibition in a cell proliferation assay. Sunitinib and FTC did not inhibit 125 I-iodoarylazidoprazosin-binding to F431L-BCRP. Thus, residue Phe-431 of BCRP is important for the pharmacological interaction with sunitinib and FTC. Collectively, this is the first report showing a differential effect of a germ-line variation of the BCRP ⁄ ABCG2 gene on the pharmacological interaction between small-molecule TKIs and BCRP. These findings would be useful for improving our understanding of the pharmaceutical effects of sunitinib in personalized chemotherapy. (Cancer Sci 2010; 101: 1493-1500 T he ATP-binding cassette (ABC) transporter proteins, particularly P-glycoprotein (P-gp ⁄ ABCB1), multidrug resistance-associated protein 1 (MRP1 ⁄ ABCC1), and breast cancer resistance protein (BCRP ⁄ MXR ⁄ ABCP ⁄ ABCG2) have been extensively studied as key molecules that are involved in the multidrug-resistant phenotype of cancer cells.(1,2) P-gp effluxes various anticancer agents including vincristine (VCR), paclitaxel (PTX), doxorubicin (DOX), and mitoxantrone (MXR). (1,3) BCRP is referred to as a half-type ABC transporter that functions as a homodimer and transports anticancer agents such as topotecan, irinotecan, SN-38 (7-ethyl-10-hydroxycamptothecin), methotrexate, and MXR out of cells. Many compounds have been tested for their ability to overcome ABC transporter-mediated drug resistance. Verapamil, cyclosporine A (CsA), and other compounds have been identified as inhibitors of P-gp, (5,6) while fumitremorgin C (FTC), tamoxifen derivatives, and certain flavonoids inhibit BCRP.(7-10) Verapamil, for example, directly interacts with P-gp and competitively interferes with transporter-substrate binding. (11) Co-administration of inhibitory compounds would be expected to overcome unwanted anticancer drug resistance during chemotherapy, but is also suspected to affect the pharmacokinetics and pharmacodynamics of substrate anticancer drugs....

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“…For example, mutations in the ABC transporter, cystic fibrosis transmembrane conductance regulator (CFTR) is responsible for the development of the lung disorder cystic fibrosis, while the cause of Tangier disease, a high cholesterol-related condition, is attributed to mutations in ABCA1 (van der Deen et al, 2005). Other studies provide evidence that genetic polymorphisms exert an effect on interethnic variation and frequency of CYP and multi-drug resistance gene (MDR1) alleles among Orientals, Caucasians and Africans (Iida A, 2002;Lai et al, 2011). Furthermore, interpatient variability in drug response and toxicity to standard doses of the most commonly prescribed chemotherapeutic agents is often explained, in part, by genetic polymorphisms in genes encoding CYP enzymes and ABC transporters.…”

Section: Pharmacogenomicsmentioning

confidence: 99%