Global Patent Index - EP 1060184 A4

EP 1060184 A4 2002-09-25 - BEST'S MACULAR DYSTROPHY GENE

Title (en)

BEST'S MACULAR DYSTROPHY GENE

Title (de)

BEST'S MACULADYSTROPHIE-GEN

Title (fr)

GENE DE LA DYSTROPHIE CORNEENNE DE BEST

Publication

EP 1060184 A4 (EN)

Application

EP 99908345 A

Priority

  • US 9903790 W
  • US 7594198 P
  • US 11292698 P

Abstract (en)

[origin: WO9943695A1] Novel human and mouse DNA sequences that encode the gene CG1CE, which, when mutated, is responsible for Best's macular dystrophy, are provided. Provided are genomic CG1CE DNA as well as cDNA that encodes the CG1CE protein. Also provided is CG1CE protein encoded by the novel DNA sequences. Methods of expressing CG1CE protein in recombinant systems are provided. Also provided are diagnostic methods that detect patients having mutant CG1CE genes.

IPC 1-7 (main, further and additional classification)

C07H 21/02; C07K 14/00; C07K 16/00; C12N 15/63; C12P 19/34; C12Q 1/00

IPC 8 full level (invention and additional information)

C12N 15/09 (2006.01); C07K 14/47 (2006.01); C07K 16/18 (2006.01); C12N 5/10 (2006.01); C12P 19/34 (2006.01); C12P 21/08 (2006.01); C12Q 1/68 (2006.01)

CPC (invention and additional information)

C07K 14/47 (2013.01)

Citation (search report)

  • [PX] PETRUKHIN KONSTANTIN ET AL: "Identification of the gene responsible for Best macular dystrophy.", NATURE GENETICS, vol. 19, no. 3, July 1998 (1998-07-01), pages 241 - 247, XP002205466, ISSN: 1061-4036
  • [PX] MARQUARDT ANDREAS ET AL: "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).", HUMAN MOLECULAR GENETICS, vol. 7, no. 9, 1998, pages 1517 - 1525, XP002205467, ISSN: 0964-6906
  • [XDY] COOPER PAUL R ET AL: "A sequence-ready high resolution physical map of the best macular dystrophy gene region in 11q12-q13.", GENOMICS, vol. 41, no. 2, 1997, pages 185 - 192, XP002205468, ISSN: 0888-7543
  • [XY] STÖHR H ET AL: "A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.", GENOME RESEARCH. UNITED STATES JAN 1998, vol. 8, no. 1, January 1998 (1998-01-01), pages 48 - 56, XP002205469, ISSN: 1088-9051
  • [YD] GRAFF C ET AL: "Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids.", HUMAN GENETICS. GERMANY DEC 1997, vol. 101, no. 3, December 1997 (1997-12-01), pages 263 - 270, XP002205470, ISSN: 0340-6717
  • [X] DATABASE EMBL [online] EVANS ET AL.: "Human Chromosome 11p12.2 PAC clone pDJ466a11, complete sequence.", XP002205471, Database accession no. AC003025
  • [XD] DATABASE EMBL [online] ADAMS ET AL.: "EST178031 Colon carcinoma (HCC) cell line Homo sapiens cDNA 5' end.", XP002205472, Database accession no. AA307119
  • [A] FARBER DEBORA B ET AL: "Identification of genes causing photoreceptor degenerations leading to blindness.", CURRENT OPINION IN NEUROBIOLOGY, vol. 7, no. 5, October 1997 (1997-10-01), pages 666 - 673, XP001088446, ISSN: 0959-4388
  • See also references of WO 9943695A1

Designated contracting state (EPC)

AT BE CH DE DK ES FI FR GB GR IE IT LI LU NL PT SE

EPO simple patent family

WO 9943695 A1 19990902; CA 2321129 A1 19990902; EP 1060184 A1 20001220; EP 1060184 A4 20020925; JP 2002504559 A 20020212

INPADOC legal status


2007-06-20 [18D] DEEMED TO BE WITHDRAWN

- Effective date: 20061227

2002-09-25 [A4] SUPPLEMENTARY SEARCH REPORT

- Effective date: 20020814

2002-09-25 [AK] DESIGNATED CONTRACTING STATES:

- Kind Code of Ref Document: A4

- Designated State(s): AT BE CH DE DK ES FI FR GB GR IE IT LI LU NL PT SE

2000-12-20 [17P] REQUEST FOR EXAMINATION FILED

- Effective date: 20000925

2000-12-20 [AK] DESIGNATED CONTRACTING STATES:

- Kind Code of Ref Document: A1

- Designated State(s): AT BE CH DE DK ES FI FR GB GR IE IT LI LU NL PT SE