Chemistry: molecular biology and microbiology – Micro-organism – tissue cell culture or enzyme using process... – Recombinant dna technique included in method of making a...
Patent
1994-10-12
1997-08-05
Jacobson, Dian C.
Chemistry: molecular biology and microbiology
Micro-organism, tissue cell culture or enzyme using process...
Recombinant dna technique included in method of making a...
4353201, 536 235, C12P 2102, C12N 1563, C07H 2104
Patent
active
056541708
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.
REFERENCES:
Gabow, P.A., "Cystic Disease of the Kidney", In: Cecil Textbook of Medicine, Ed. J.B. Wyngaarden et al., Philadelphia: W.B. Saunders Company. 1988, pp. 644-647.
Wunderle et al. (1944) "Breakpoint break for consortium studying adult PKD" Cell 77: 785-786.
Gillespie et al. (1990) "Cosmid walking and chromosome jumping in the region of PKD1 . . . " Nucl. Acids Res. 18(23)7071-7075.
Harris, P.C. et al. (1995) "Polycystic kidney disease 1: Identification an analysis of the primary defect" J. Am. Soc. Nephr. 6(4):1125-1133 1995.
Peral, B. et al. (1996) "Screening of the 3' region of the polycystic kidney disease 1 (PKD 1) gene reveals six novel mutations" Am. J. Hum. Genet. 58(1):86-96 1996.
Peral, B. et al. (1995) "Splicing mutation of the polycystic kidney disease 1 (PKD 1) gene induced by intronic deletion" Hum. Molec. Genet. 4(4):569-574 1995.
Cotton, et al., (1988), Proc. Natl. Acad. Sci., USA., 85:4397.
European PKD Consortium, (1994), Cell, 77:881.
Gabow et al., (1989), Adv. Nephrol, 18:19-32.
Gabow, (1993), New Eng. J. Med., 329:332-342.
Guldberg et al., (1994), Nuc. Acids Res., 22:880.
Iglesias et al., (1983), Am. J. Kid. Dis., 2:630-639.
Nielsen et al., (1991), Science, 254:1497.
Parfrey et al., (1990), New Eng. J. Med., 323:1085-1090.
Peters et al., (1992). Contrib. Nephrol., 97:128-139.
Pierce et al., (1992), Proc. Natl. Acad. Sci., USA, 89:2056-2060.
Proc. European Dialysis and Transplant Assn., (1981), Robinson and Hawkins, eds., 17:20.
Ravnik-Glavac et al., (1994), Hum. Mol. Genet., 3:801.
Reeders et al., (1985), Nature, 317:542.
Saiki et al. (1988), Science, 239:487.
Striker et al., (1986), Am J. Nephrol., 6:161-164.
Tam, (1988), Proc. Natl. Acad. Sci., USA, 85:5409-5413.
Burn Timothy C.
Connors Timothy D.
Dackowski William
Germino Gregory
Klinger Katherine W.
Genzyme Corporation
Jacobson Dian C.
Johns Hopkins University
Lau Kawai
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