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Article / Publication Details
We report here the genomic and transcriptional characterization in mouse and man of a novel transporter of the ABCA subclass, named ABCA7. As it is the case for other ABCA genes, the predicted protein encoded by ABCA7 is a full symmetric transporter, highly conserved across species. The ABCA7 gene maps to human chromosome 19 and to the homologous region at band B4-C1 on mouse chromosome 10. The preferential expression of ABCA7 in the spleen, thymus, and fetal liver is consistent with the finding, in both human and mouse promoter, of sites targeted by lymphomyeloid-specific transcription factors. This suggests that ABCA7 may play a pivotal role in the developmental specification of hematopoietic cell lineages.
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- Allikmets R: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet 17:122 (1997).
- Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration [see comments]. Science 277:1805–1807 (1997a).
- Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR: A photoreceptor cell-specific ATP-binding cassette transporter gene ABCR is mutated in recessive Stargardt macular dystrophy. Nature Genet 15:236–246 (1997b).
- Allikmets R, Wasserman WW, Hutchinson A, Smallwood P, Nathans JKR, Schneider TD, Dean M: Organization of the ABCR gene: analysis of promoter and splice junction sequences Gene 215: 111–122 (1998).
- Assmann G, von Eckardstein A, Brewer Jr HB: Familial high density lipoprotein deficiency: Tangier disease, in Scriver CR, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, pp 2053–2072 (McGraw-Hill, New York 1995).
- Bodzioch M, Orso E, Klucken J, Langmann T, Böttcher A, Diederich W, Drobnik W, Barlage S, Büchler C, Porsch-Özcürümez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G: The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genet 22:347–351 (1999).
- Broccardo C, Luciani MF, Chimini G: The ABCA subclass of mammalian transporters. Biochim biophys Acta 1461:395–404 (1999).
- Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest Jr J, Hayden MR: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genet 22:336–345 (1999).
- Costet P, Luo Y, Wang N, Tall AR: Sterol-dependent transactivation of the human ABC1 promoter by the liver X receptor/retinoid X receptor. J biol Chem 275:28240–28245 (2000).
- van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FPM: ABCR unites what ophthalmologists divide(s). Ophthal Genet 19:117–122 (1998).
- Failli V, Rogard M, Mattei MG, Vernier P, Retaux S: Lhx9 and Lhx9alpha LIM-homeodomain factors: genomic structure expression patterns, chromosomal localization, and phylogenetic analysis. Genomics 64:307–317 (2000).
- Gerber S, Rozet JM, van de Pol TJ, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FP: Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics 48 139–142 (1998).
- Hamon Y, Broccardo C, Chambenoit O, Luciani MF, Toti F, Chaslin S, Freyssinet JM, Devaux P, Neish J, Marguet D, Chimini G: ABC1 promotes engulfment of apoptotic cells and transbilayer redistribution of phosphatidylserine. Nature Cell Biol 2:399–406 (2000).
- Higgins CF: ABC transporters: from microorganisms to man. Annu Rev Cell Biol 8:67–113 (1992).
- Kaminski WE, Orso E, Diederich W, Klucken J, Drobnik W, Schmitz G: Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7). Biochem biophys Res Commun 273: 532–538 (2000).
- Klucken J, Buchler C, Orso E, Kaminski WE, Porsch-Ozcurumez M, Liebisch G, Kapinsky M, Diederich W, Drobnik W, Dean M, Allikmets R, Schmitz G: ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. Proc natl Acad Sci, USA 97:817–822 (2000).
- Luciani MF, Denizot F, Savary S, Mattei MG, Chimini G: Cloning of two novel ABC transporters mapping on human chromosome 9. Genomics 21:150–159 (1994).
- Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzales-Duarte R, Balcells S: Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genet 18:11–12 (1998).
- McNeish J, Aiello RJ, Guyot D, Turi T, Gabel C, Aldinger C, Hoppe KL, Roach ML, Royer LJ, de Wet J, Broccardo C, Chimini G, Francone OL: High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1. Proc natl Acad Sci, USA 97:4245–4250 (2000).
- Orso E, Broccardo C, Böttcher A, Liebisch G, Drobnik W, Kaminski W, Chambenoit O, Götz A, Diederich W, Spruss T, Luciani MF, Rothe G, Lackner KJ, Chimini G, Schmitz G: ABC1 mediates the cellular export of cholesterol and phospholipids: defective Golgi to plasma membrane lipid transport in ABC1 null mice and Tangier disease. Nature Genet 24:192–196 (2000).
- Pullinger CR, Hakamata H, Duchateau PN, Eng C, Aouizerat BE, Cho MH, Fielding CJ, Kane JP: Analysis of hABC1 gene 5′ end: additional peptide sequence promoter region and four polymorphisms. Biochem biophys Res Commun 271:451–455 (2000).
- Remaley AT, Rust S, Rosier M, Knapper C, Naudin L, Broccardo C, Peterson KM, Koch C, Arnould I, Prades C, Duverger N, Funke H, Assman G, Dinger M, Dean M, Chimini G, Santamarina-Fojo S, Fredrickson DS, Denefle P, Brewer Jr HB: Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc natl Acad Sci, USA 96:12685–12690 (1999).
- Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denefle P, Assmann G: Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genet 22:352–355 (1999).
- Santamarina-Fojo S, Peterson K, Knapper C, Qiu Y, Freeman L, Cheng JF, Osorio J, Remaley A, Yang XP, Haudenschild C, Prades C, Chimini G, Blackmon E, Francois T, Duverger N, Rubin EM, Rosier M, Denefle P, Fredrickson DS, Brewer HB, Jr: Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter. Proc natl Acad Sci, USA 97:7987–7992 (2000).
- Venkateswaran A, Repa JJ, Lobaccaro JM, Bronson A, Mangelsdorf DJ, Edwards PA: Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages: a transcriptional role for specific oxysterols. J biol Chem 275:14700–14707 (2000).
- Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH: Insights into the function of Rim protein in photoreceptors and etiology of Stargardt’s disease from the phenotype in abcr knockout mice Cell 98:13–23 (1999).
- Werner T: Models for prediction and recognition of eukaryotic promoters. Mammal Genome 10:168–175 (1999).
- Young SG, Fielding CJ: The ABCs of cholesterol efflux. Nature Genet 22:316–318 (1999).