Polycystic kidney disease gene and protein

US6071717A · kind A · utility

Assignees

• Genzyme Corporation · US
• THE JOHNS HOPKINS UNIVERSITY · US

Inventors

• Katherine W. Klinger · Sudbury, US
• Timothy C. Burn · Northborough, US
• Timothy D. Connors · Hopkinton, US
• William Dackowski · Hopkinton, US
• Gregory G. Germino · Bethesda, US
• Feng Qian · Baltimore, US
• Gregory Landes · San Bruno, US

Key dates

• Filing date: Jun 4, 1996
• Grant date: Jun 6, 2000
• Expiry date: Jun 4, 2016

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2800/347
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

The present invention involves isolated nucleic acid encoding human PKD1, and sequences derived therefrom. The invention also encompasses vectors comprising these nucleic acids, host cells transformed with the vectors, and methods for producing PKD1 protein or fragments thereof. In another aspect, the invention involves isolated oligonucleotides that hybridize only to the authentic expressed PKD1 gene, and not to PKD1 homologues. In yet another aspect, the invention involves isolated mutant PKD1 genes, and their cDNA cognates. Further provided are isolated oligonucleotides that discriminate between normal and mutant versions of the PKD1 gene. Methods and compositions for treating APKD or disease conditions having the characteristics of APKD are also provided.