The ABCA subclass of mammalian transporters

Biochimica et Biophysica Acta - Biomembranes

Volumn 1461, Issue 2, 1999, Pages 395-404

  Broccardo, Cyril ^a   Luciani, Marie Francoise ^a   Chimini, Giovanna ^a  

^a CENTRE D IMMUNOLOGIE DE MARSEILLE LUMINY   (France)

Author keywords

ABC1; ABCA subclass; ABCR; Consensus motif; Gene family

Indexed keywords

ABC TRANSPORTER; PROTEIN SUBUNIT;

GENE SEQUENCE; GENETIC CONSERVATION; GENETIC ORGANIZATION; HUMAN; MULTIGENE FAMILY; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN STRUCTURE; RETINA DEGENERATION; REVIEW;

AMINO ACID SEQUENCE; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BACTERIAL PROTEINS; CAENORHABDITIS ELEGANS PROTEINS; CARRIER PROTEINS; EYE DISEASES; GENOME; GLYCOPROTEINS; HUMANS; INVERTEBRATES; MOLECULAR SEQUENCE DATA; NUCLEOTIDES;

MAMMALIA;

EID: 0032699844     PISSN: 00052736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0005-2736(99)00170-4     Document Type: Review

References (45)

1. Tomii K., Kanehisa M. A comparative analysis of ABC transporters in complete microbial genomes. Genome Res. 8:1998;1048-1059.
2. Quentin Y., Fichant G., Denizot F. Inventory, assembly and analysis of Bacillus subtilis ABC transport systems. J. Mol. Biol. 287:1999;467-484.
3. Linton K.J., Higgins C. The Escherichia coli ATP binding cassette (ABC) proteins. Mol. Microbiol. 28:1998;5-13.
4. Genome sequence of the nematode C. elegans a platform for investigating biology. Science. 282:1998;2012-2018.
5. Michaelis S., Berkower C. Sequence comparison of yeast ATP-binding cassette proteins. Cold Spring Harbor Symp. Quant. Biol. 60:1995;291-307.
6. Decottignies A., Goffeau A. Complete inventory of the yeast ABC proteins. Nature Genet. 15:1997;137-145.
7. Allikmets R., Gerrard B., Hutchinson A., Dean M. Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database. Hum. Mol. Genet. 5:1996;1649-1655.
8. Luciani M.F., Denizot F., Savary S., Mattei M.G., Chimini G. Cloning of two novel ABC transporters mapping on human chromosome 9. Genomics. 21:1994;150-159.
9. Guy R., Conti F. Pursuing the structure and function of voltage-gated channels. Trends Neurosci. 13:1990;201-206.
10. + channel. Science. 251:1991;939-941.
11. + channels. Science. 251:1991;942-944.
12. Fan H., Villegas C., Chan A.K., Wright J.A. Myc-epitope tagged proteins detected with the 9E10 antibody in immunofluorescence and immunoprecipitation assays but not in Western blot analysis. Biochem. Cell Biol. 76:1998;125-128.
13. Luciani M.F., Chimini G. The ATP binding cassette transporter ABC1, is required for the engulfment of corpses generated by apoptotic cell death. EMBO J. 15:1996;226-235.
14. Klugbauer N., Hofmann F. Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. FEBS Lett. 391:1996;61-65.
15. Connors T.D., Van Raay T.J., Petry L.R., Klinger K.W., Landes G.M., Burn T.C. The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. Genomics. 39:1997;231-234.
16. Allikmets R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 17:1997;122.
17. Azarian S.M., Travis G.H. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 409:1997;247-252.
18. Sun H., Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nature Genet. 17:1997;15-16.
19. Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R. A photoreceptor cell-specific ATP-binding cassette transporter gene ABCR is mutated in recessive Stargardt macular distrophy. Nature Genet. 15:1997;236-246.
20. Allikmets R., Wasserman W.W., Hutchinson A., Smallwood P., Nathans J., K R., Schneider T.D., Dean M. Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene. 215:1998;111-122.
21. Azarian S.M., Megarity C.F., Weng J., Horvath D.H., Travis G.T. The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis. Hum. Genet. 102:1998;699-705.
22. Zielenski J., Rozmahel R., Bozon D., Kerem B., Grzelczak Z., Riordan J.R., Rommens J., Tsui L. Genomic DNA sequence of the CFTR gene. Genomics. 10:1991;214-228.
23. Grant C.E., Kurz E.U., Cole S.P.C., Deeley R.G. Analysis of the intron-exon organization of the human MRP gene and alternative splicing of its mRNA. Genomics. 45:1997;368-378.
24. Chen C., Clark D., Ueda K., Pastan I., Gottesman M.M., Roninson I.B. Genomic organization of the human MDR1 gene and origin of P-glycoproteins. J. Biol. Chem. 265:1990;506-514.
25. Thomas P.M., Cote G.J., Wohllk N., Haddad B., Mathew P.M., Rabl W., Aguilar-Bryan L., Gagel R.F., Bryan J. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinic hypoglycemia of infancy. Science. 268:1995;426-429.
26. Toh S., Wada M., Uchiumi T., Inokuchi A., Makino Y., Horie Y., Adachi Y., Sakisaka S., Kuwano M. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am. J. Hum. Genet. 64:1999;739-746.
27. Schneider E., Hunke S. ABC transport systems: functional and structural aspects of the ATP-hydrolyzing subunits/domains. FEMS Microbiol. Rev. 22:1998;1-20.
28. Hung L.W., Wang I.X., Nikaido K., Liu P.Q., Ferro-Luzzi Ames G., Kim S.H. Crystal structure of the ATP-binding subunit of an ABC transporter. Nature. 396:1998;703-707.
29. Wu Y., Horvitz R.H. The C. elegans cell corpse engulfment gene ced-7 encodes a protein similar to ABC transporters. Cell. 93:1998;951-960.
30. Wilson R., Ainscough R., Anderson K., Baynes C., Berks M., Bonfield J., Burton J., Connell M., Copsey T., Cooper J., Coulson A., Craxton M., Dear S., Du Z., Durbin R., Favello A., Fraser A., Fulton L., Gardner A., Green P., Hawkins T., Hillier L., Jier M., Johnston L. 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans. Nature. 368:1994;32-38.
31. Langmann T., Klucken J., Reil M., Liebisch G., Luciani M.F., Chimini G., Kaminski W.E., Schmitz G. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem. Biophys. Res. Commun. 257:1999;29-33.
32. Rust S., Rosier M., Funke H., Real J., Amoura Z., Piette J.C., Deleuze J.F., Brewer H.B., Duverger N., Denefle P., Assmann G. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genet. 22:1999;352-355.
33. Bodzioch M., Orso E., Klucken J., Langmann T., Böttcher A., Diederich W., Drobnik W., Barlage S., Büchler C., Porsch-Özcürümez M., Kaminski W.E., Hahmann H.W., Oette K., Rothe G., Aslanidis C., Lackner K.J., Schmitz G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genet. 22:1999;347-351.
34. Brooks-Wilson A., Marcil M., Clee S.M., Zhang L.H., Roomp K., van Dam M., Yu L., Brewer C., Collins J.A., Molhuizen H.O., Loubser O., Ouelette B.F., Fichter K., Ashbourne-Excoffon K.J., Sensen C.W., Scherer S., Mott S., Denis M., Martindale D., Frohlich J., Morgan K., Koop B., Pimstone S., Kastelein J.J., Genest J. Jr., Hayden M.R. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genet. 22:1999;336-345.
35. Young S.G., Fielding C.J. The ABCs of cholesterol efflux. Nature Genet. 22:1999;316-318.
36. Oram J.F., Yokohama S. Apolipoprotein-mediated removal of cellular cholesterol and phospholipids. J. Lipid. Res. 37:1996;2473-2491.
37. Rust S., Walter M., Funke H., von Eckardstein A., Cullen P., Kroes H.Y., Hordijk R., Geisel J., Kastelein J., Molhuizen H.O., Schreiner M., Mischke A., Hahmann H.W., Assmann G. Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. Nature Genet. 20:1998;96-98.
38. van Driel M.A., Maugeri A., Klevering B.J., Hoyng C.B., Cremers F.P.M. ABCR unites what ophthalmologists divide(s). Ophthalmic Genet. 19:1998;117-122.
39. Gregory-Evans K., Bhattacharya S.S. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 14:1998;103-108.
40. Weng J., Mata N.L., Azarian S.M., Tzekov R.T., Birch D.G., Travis G.H. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell. 98:1999;13-23.
41. Allikmets R., Shroyer N.F., Singh N., Seddon J.M., Lewis R.A., Bernstein P.S., Peiffer A., Zabriskie N.A., Li Y., Hutchinson A., Dean M., Lupski J.R., Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 277:1997;1805-1807.
42. Sun H., Molday R.S., Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor specific ABC transporter responsible for Stargardt disease. J. Biol. Chem. 274:1999;8269-8281.
43. Shapiro A.B., Ling V. ATPase activity of purified and reconstituted P-glycoprotein from Chinese hamster ovary cells. J. Biol. Chem. 269:1994;3745-3754.
44. Ambudkar S.V., Lelong I.H., Zhang J., Cardarelli C.O., Gottesman M.M., Pastan I. Partial purification and reconstitution of the human multidrug-resistance pump: Characterization of the drug-stimulatable ATP hydrolysis. Proc. Natl. Acad. Sci. USA. 89:1992;8472-8476.
45. Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M. Prediction of coding sequences of unidentified human genes, the complete sequences of 100 new cDNA clones from brain which code for large proteins. DNA Res. 5:1998;355-364.