Title:
POLYMORPHIC SEQUENCES OF THE HUMAN ABCA1 GENE, THEIR USES, DETECTION METHODS AND KITS
Document Type and Number:
WIPO Patent Application WO2002036770
Kind Code:
A3
Abstract:
The invention concerns isolated nucleic acids coding for the ABCA1 carrier protein and comprising sequence polymorphic variations, and polypeptides derived from the human ABCA1 carrier and containing polymorphic amino acids. The invention also concerns allele-specific primers and probes hybridising to regions flanking or containing said polymorphic sites or positions, methods and kits or sets for analysing the allelism variations affecting the ABCA1 gene and finally the use of polymorphisms of the human ABCA1 gene for diagnosing a disease or a predisposition to a disease, in particular related to the concentration of plasmatic cholesterol High Density Lipoprotein (HDL), as for example is the case in familial HDL deficiencies such as Tangier disease, myocardial infarction, atherosclerosis, and other cardiovascular diseases.
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Inventors:
DENEFLE PATRICE (FR)
ROSIER MARIE-FRANCOISE (FR)
ARNOULD-REGUIGNE ISABELLE (FR)
DUVERGER NICOLAS (FR)
CAMBIEN FRANCOIS (FR)
ROSIER MARIE-FRANCOISE (FR)
ARNOULD-REGUIGNE ISABELLE (FR)
DUVERGER NICOLAS (FR)
CAMBIEN FRANCOIS (FR)
Application Number:
PCT/FR2001/003182
Publication Date:
September 04, 2003
Filing Date:
October 12, 2001
Export Citation:
Assignee:
AVENTIS PHARMA SA (FR)
INST NAT SANTE RECH MED (FR)
DENEFLE PATRICE (FR)
ROSIER MARIE-FRANCOISE (FR)
ARNOULD-REGUIGNE ISABELLE (FR)
DUVERGER NICOLAS (FR)
CAMBIEN FRANCOIS (FR)
INST NAT SANTE RECH MED (FR)
DENEFLE PATRICE (FR)
ROSIER MARIE-FRANCOISE (FR)
ARNOULD-REGUIGNE ISABELLE (FR)
DUVERGER NICOLAS (FR)
CAMBIEN FRANCOIS (FR)
International Classes:
A01K67/027; C07K14/47; C07K16/18; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12N15/09; C12N15/12; C12Q1/68; G01N33/53; G01N33/566; (IPC1-7): C12Q1/68
Domestic Patent References:
| WO2000055318A2 | 2000-09-21 | |||
| WO2001030848A2 | 2001-05-03 | |||
| WO2000078970A1 | 2000-12-28 |
Other References:
BROOKS-WILSON A ET AL: "MUTATIONS IN ABC1 IN TANGIER DISEASE AND FAMILIAL HIGH-DENSITY LIPOPROTEIN DEFICIENCY", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 336 - 345, XP000889767, ISSN: 1061-4036
ORSO E ET AL: "TRANSPORT OF LIPIDS FROM GOLGI TO PLASMA MEMBRANE IS DEFECTIVE IN TANGIER DISEASE PATIENTS AND ABC1-DEFICIENT MICE", NATURE GENETICS, NEW YORK, NY, US, vol. 24, no. 2, February 2000 (2000-02-01), pages 192 - 196, XP000889762, ISSN: 1061-4036
LAWN R M ET AL: "THE TANGIER DISEASE GENE PRODUCT ABC1 CONTROLS THE CELLULAR APOLIPOPROTEIN-MEDIATED LIPID REMOVAL PATHWAY", JOURNAL OF CLINICAL INVESTIGATION, NEW YORK, NY, US, vol. 104, no. 8, October 1999 (1999-10-01), pages R25 - R31, XP000884782, ISSN: 0021-9738
MARCIL M ET AL: "MUTATIONS IN THE ABC1 GENE IN FAMILIAL HDL DEFICIENCY WITH DEFECTIVE CHOLESTEROL EFFLUX", LANCET THE, LANCET LIMITED. LONDON, GB, vol. 354, no. 9187, 16 October 1999 (1999-10-16), pages 1341 - 1346, XP000877242, ISSN: 0140-6736
BODZIOCH M ET AL: "THE GENE ENCODING ATP-BINDING CASSETTE TRANSPORTER 1 IS MUTATED IN TANGIER DISEASE", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 347 - 351, XP000889766, ISSN: 1061-4036
MOTT STEPHANIE ET AL: "Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: Role of the ABCA1 gene mutations.", ATHEROSCLEROSIS, vol. 152, no. 2, October 2000 (2000-10-01), pages 457 - 468, XP001016219, ISSN: 0021-9150
WANG JIAN ET AL: "Common and rare ABCA1 variants affecting plasma HDL cholesterol.", ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, vol. 20, no. 8, August 2000 (2000-08-01), pages 1983 - 1989, XP002176955, ISSN: 1079-5642
PULLINGER CLIVE R ET AL: "Analysis of hABC1 gene 5' end: Additional peptide sequence, promoter region, and four polymorphisms.", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 271, no. 2, 10 May 2000 (2000-05-10), pages 451 - 455, XP002176956, ISSN: 0006-291X
REMALEY A T ET AL: "HUMAN ATP-BINDING CASSETTE TRANSPORTER 1 (ABC1): GENOMIC ORGANIZATION AND IDENTIFICATION OF THE GENETIC DEFECT IN THE ORIGINAL TANGIER DISEASE KINDRED", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, NATIONAL ACADEMY OF SCIENCE. WASHINGTON, US, vol. 96, no. 22, 26 October 1999 (1999-10-26), pages 12685 - 12690, XP000877247, ISSN: 0027-8424
RUST S ET AL: "TANGIER DISEASE IS CAUSED BY MUTATIONS IN THE GENE ENCODING ATP--BINDING CASSETTE TRANSPORTER 1", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 352 - 355, XP000884993, ISSN: 1061-4036
SANTAMARINA-FOJO SILVIA ET AL: "Complete genomic sequence of the human ABCA1 gene: Analysis of the human and mouse ATP-binding cassette A promoter.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 97, no. 14, 5 July 2000 (2000-07-05), July 5, 2000, pages 7987 - 7992, XP002176957, ISSN: 0027-8424
ORSO E ET AL: "TRANSPORT OF LIPIDS FROM GOLGI TO PLASMA MEMBRANE IS DEFECTIVE IN TANGIER DISEASE PATIENTS AND ABC1-DEFICIENT MICE", NATURE GENETICS, NEW YORK, NY, US, vol. 24, no. 2, February 2000 (2000-02-01), pages 192 - 196, XP000889762, ISSN: 1061-4036
LAWN R M ET AL: "THE TANGIER DISEASE GENE PRODUCT ABC1 CONTROLS THE CELLULAR APOLIPOPROTEIN-MEDIATED LIPID REMOVAL PATHWAY", JOURNAL OF CLINICAL INVESTIGATION, NEW YORK, NY, US, vol. 104, no. 8, October 1999 (1999-10-01), pages R25 - R31, XP000884782, ISSN: 0021-9738
MARCIL M ET AL: "MUTATIONS IN THE ABC1 GENE IN FAMILIAL HDL DEFICIENCY WITH DEFECTIVE CHOLESTEROL EFFLUX", LANCET THE, LANCET LIMITED. LONDON, GB, vol. 354, no. 9187, 16 October 1999 (1999-10-16), pages 1341 - 1346, XP000877242, ISSN: 0140-6736
BODZIOCH M ET AL: "THE GENE ENCODING ATP-BINDING CASSETTE TRANSPORTER 1 IS MUTATED IN TANGIER DISEASE", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 347 - 351, XP000889766, ISSN: 1061-4036
MOTT STEPHANIE ET AL: "Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: Role of the ABCA1 gene mutations.", ATHEROSCLEROSIS, vol. 152, no. 2, October 2000 (2000-10-01), pages 457 - 468, XP001016219, ISSN: 0021-9150
WANG JIAN ET AL: "Common and rare ABCA1 variants affecting plasma HDL cholesterol.", ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, vol. 20, no. 8, August 2000 (2000-08-01), pages 1983 - 1989, XP002176955, ISSN: 1079-5642
PULLINGER CLIVE R ET AL: "Analysis of hABC1 gene 5' end: Additional peptide sequence, promoter region, and four polymorphisms.", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 271, no. 2, 10 May 2000 (2000-05-10), pages 451 - 455, XP002176956, ISSN: 0006-291X
REMALEY A T ET AL: "HUMAN ATP-BINDING CASSETTE TRANSPORTER 1 (ABC1): GENOMIC ORGANIZATION AND IDENTIFICATION OF THE GENETIC DEFECT IN THE ORIGINAL TANGIER DISEASE KINDRED", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF USA, NATIONAL ACADEMY OF SCIENCE. WASHINGTON, US, vol. 96, no. 22, 26 October 1999 (1999-10-26), pages 12685 - 12690, XP000877247, ISSN: 0027-8424
RUST S ET AL: "TANGIER DISEASE IS CAUSED BY MUTATIONS IN THE GENE ENCODING ATP--BINDING CASSETTE TRANSPORTER 1", NATURE GENETICS, NEW YORK, NY, US, vol. 22, no. 4, August 1999 (1999-08-01), pages 352 - 355, XP000884993, ISSN: 1061-4036
SANTAMARINA-FOJO SILVIA ET AL: "Complete genomic sequence of the human ABCA1 gene: Analysis of the human and mouse ATP-binding cassette A promoter.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 97, no. 14, 5 July 2000 (2000-07-05), July 5, 2000, pages 7987 - 7992, XP002176957, ISSN: 0027-8424
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