Inventors:
Katherine Klinger - Sudbury MA
Timothy Burn - Northborough MA
Timothy Connors - Hopkinton MA
William Dackowski - Hopkinton MA
Gregory Germino - Baltimore MD
Feng Qian - Baltimore MD
Gregory Landes - Northborough MA
Assignee:
Genzyme Corporation - Framingham MA
Johns Hopkins University - Baltimore MD
International Classification:
C07H 2104, C07K 14435, C12N 1563, C12P 2102
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.