Analysis of hABC1 gene 5' end: Additional peptide sequence, promoter region, and four polymorphisms

Biochemical and Biophysical Research Communications

Volumn 271, Issue 2, 2000, Pages 451-455

  Pullinger, Clive R ^a   Hakamata, Hideki ^b   Duchateau, Philippe N ^b   Eng, Celeste ^b   Aouizerat, Bradley E ^b   Cho, Min H ^b   Fielding, Christopher J ^a   Kane, John P ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; NUCLEOTIDE;

AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CHOLESTEROL TRANSPORT; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; ISCHEMIC HEART DISEASE; LIPID METABOLISM; PRIORITY JOURNAL; PROMOTER REGION; TANGIER DISEASE;

EID: 0034630729     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.2000.2652     Document Type: Article

References (21)

1. Klein, I., Sarkadi, B., and Vαradi, A. (1999) An inventory of the human ABC proteins. Biochim. Biophys. Acta. 1461, 237-262.
2. Becq, F., Hamon, Y., Bajetto, A., Gola, M., Verrier, B., and Chimini, G. (1997) ABC1, an ATP binding cassette transporter required for phagocytosis of apoptotic cells, generates a regulated anion flux after expression in Xenopus laevis oocytes. J. Biol. Chem. 272, 2695-2699.
3. Luciani, M. F., and Chimini, G. (1996) The ATP binding cassette transporter ABC1, is required for the engulfment of corpses generated by apoptotic cell death. EMBO. J. 15, 226-235.
4. Langmann, T., Klucken, J., Reil, M., Liebisch, G., Luciani, M. F., Chimini, G., Kaminski, W. E., and Schmitz, G. (1999) Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): Evidence for sterol-dependent regulation in macrophages. Biochem. Biophys. Res. Commun. 257, 29-33.
5. Orsó, E., Broccardo, C., Kaminski, W. E., Böttcher, A., Liebisch, G., Drobnik, W., Götz, A., Chambenoit, O., Diederich, W., Langmann, T., Spruss, T., Luciani, M. F., Rothe, G., Lackner, K. J., Chimini, G., and Schmitz, G. (2000) Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. Nat. Genet. 24, 192-196.
6. Rust, S., Rosier, M., Funke, H., Real, J., Amoura, Z., Piette, J. C., Deleuze, J. F., Brewer, H. B., Duverger, N., Denèfle, P., and Assmann, G. (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat. Genet. 22, 352-355.
7. Remaley, A. T., Rust, S., Rosier, M., Knapper, C., Naudin, L., Broccardo, C., Peterson, K. M., Koch, C., Arnould, I., Prades, C., Duverger, N., Funke, H., Assman, G., Dinger, M., Dean, M., Chimini, G., Santamarina-Fojo, S., Fredrickson, D. S., Denefle, P., and Brewer, H. B., Jr. (1999) 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.
8. Lawn, R. M., Wade, D. P., Garvin, M. R., Wang, X., Schwartz, K., Porter, J. G., Seilhamer, J. J., Vaughan, A. M., and Oram, J. F. (1999) The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J. Clin. Invest. 104, R25-R31.
9. Marcil, M., Brooks-Wilson, A., Clee, S. M., Roomp, K., Zhang, L. H., Yu, L., Collins, J. A., van Dam, M., Molhuizen, H. O., Loubster, O., Ouellette, B. F., Sensen, C. W., Fichter, K., Mott, S., Denis, M., Boucher, B., Pimstone, S., Genest, J., Jr., Kastelein, J. J., and Hayden, M. R. (1999) Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet 354, 1341-1346.
10. 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., Hayden, M. R., and et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat. Genet. 22, 336-345.
11. Bodzioch, M., Orsó, E., Klucken, J., Langmann, T., Böttcher, A., Diederich, W., Drobnik, W., Barlage, S., Büchler, C., Porsch-Ozcürümez, M., Kaminski, W. E., Hahmann, H. W., Oette, K., Rothe, G., Aslanidis, C., Lackner, K. J., and Schmitz, G. (1999) The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat. Genet. 22, 347-351.
12. Brousseau, M., Schaefer, E., Dupuis, J., Eustace, B., Van Eerdewegh, P., Goldkamp, A., Thurston, L., FitzGerald, M., Yasek-McKenna, D., O'Neill, G., Eberhart, G., Weiffenbach, B., Ordovas, J., Freeman, M., Brown, R. J., and Gu, J. (2000) Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds. J. Lipid Res. 41, 433-441.
13. Assmann, G., vonEckardstein, A., and Brewer, H. J. (1995) Familial high density lioprotein deficiency: Tangier Disease. In The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., Eds.), pp. 2053-2072, McGraw-Hill, New York.
14. Nielsen, H., Engelbrecht, J., Brunak, S., and von Heijne, G. (1997) Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng. 10, 1-6.
15. Schug, J., and Overton, C., G. (1997) Technical Report (CBIL-TR-1997-1001-v0.0) of the Computational Biology and Informatics Laboratory, School of Medicine, University of Pennsylvania.
16. Quandt, K., Frech, K., Karas, H., Wingender, E., and Werner, T. (1995) MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 23, 4878-4884.
17. Gardiner-Garden, M., and Frommer, M. (1987) CpG islands in vertebrate genomes. J. Mol. Biol. 196, 261-282.
18. Luciani, M. F., Denizot, F., Savary, S., Mattei, M. G., and Chimini, G. (1994) Cloning of two novel ABC transporters mapping on human chromosome 9. Genomics. 21, 150-159.
19. Kozak, M. (1996) Interpreting cDNA sequences: Some insights from studies on translation. Mamm. Genome. 7, 563-574.
20. Azarian, S. M., and Travis, G. H. (1997) The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR) FEBS Lett. 409, 247-252.
21. Guan, G., Jiang, G., Koch, R. L., and Shechter, I. (1995) Molecular cloning and functional analysis of the promoter of the human squalene synthase gene. J. Biol. Chem. 270, 21958-21965.