Title:
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE NUCLEIC ACIDS AND PEPTIDES
Document Type and Number:
WIPO Patent Application WO2004074302
Kind Code:
A3
Abstract:
A novel gene involved in autosomal recessive polycystic kidney disease has been isolated. The nucleic acid sequence of the mouse gene, Cys1, and the human homologue, CYS1, are disclosed. In addition, a mutant of the Cys1 nucleic acid containing a tandem deletion is described. The Cys1 and CYS1 nucleic acids are associated with ARPKD. Southern analyses indicate that the Cys1 gene exists as a single-copy in the mouse and other mammals. The Cys1 nucleic encodes a novel, hydrophilic protein of 145 amino acids, termed cystin, that has no significant similarity to previously characterized proteins or protein domains. The polypeptide product of the Cys1 gene is detected in cilia and contains a sequence required for localization to the cilia.
Inventors:
GUAY-WOODFORD LISA (US)
Application Number:
PCT/US2004/004778
Publication Date:
October 19, 2006
Filing Date:
February 18, 2004
Export Citation:
Assignee:
UAB RESEARCH FOUNDATION (US)
GUAY-WOODFORD LISA (US)
GUAY-WOODFORD LISA (US)
International Classes:
C12P21/06; C07H21/02; C07K1/00; C07K14/00; C07K14/47; C12N1/20; C12N9/90; C12N15/00
Foreign References:
| US5643758A | 1997-07-01 |
Other References:
DATABASE GENBANK [online] 5 April 2002 (2002-04-05), HOU ET AL., accession no. NCBI Database accession no. (AF390548)
DATABASE GENBANK [online] 5 April 2002 (2002-04-05), HOU ET AL., accession no. NCBI Database accession no. (AF390548)
DATABASE GENBANK [online] 5 April 2002 (2002-04-05), HOU ET AL., accession no. NCBI Database accession no. (AF390548)
DATABASE GENBANK [online] 5 April 2002 (2002-04-05), HOU ET AL., accession no. NCBI Database accession no. (AF390548)
DATABASE GENBANK [online] 6 November 2002 (2002-11-06), WISTOW ET AL., accession no. NCBI Database accession no. (CA390259)
DATABASE GENBANK [online] 3 June 1997 (1997-06-03), HILLIER ET AL., accession no. NCBI Database accession no. (AA446394)
DATABASE GENBANK [online] 5 April 2002 (2002-04-05), HOU ET AL., accession no. NCBI Database accession no. (AF390548)
DATABASE GENBANK [online] 5 April 2002 (2002-04-05), HOU ET AL., accession no. NCBI Database accession no. (AF390548)
DATABASE GENBANK [online] 5 April 2002 (2002-04-05), HOU ET AL., accession no. NCBI Database accession no. (AF390548)
DATABASE GENBANK [online] 6 November 2002 (2002-11-06), WISTOW ET AL., accession no. NCBI Database accession no. (CA390259)
DATABASE GENBANK [online] 3 June 1997 (1997-06-03), HILLIER ET AL., accession no. NCBI Database accession no. (AA446394)
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