Collagen COL4A6: gene, protein and method of detecting collagen

Details Collagen COL4A6: gene, protein and method of detecting collagen Collagen COL4A6: gene, protein and method of detecting collagen

1995-06-23

1998-03-24

Wax, Robert A.

Chemistry: molecular biology and microbiology

Vector, per se

536 235, C12N 1563, C07H 2104

Patent

active

057311927

ABSTRACT:
A type IV collagen polynucleotide molecule, COL4A6, encoding .alpha.6(IV) polypeptide molecule, is identified on the X chromosome and expressed particularly in basement membranes. Genetic alteration of COL4A6 is associated with Alport's syndrome, a disease of basement membranes. Assays which detect an alteration of collagen .alpha.6(IV), or the polynucleotide molecules encoding it, are useful in determining pathologies associated with Alport's syndrome.

REFERENCES:
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patent: 5354690 (1994-10-01), Tryggvason
patent: 5424409 (1995-06-01), Reeders
Barker et al. "Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome," Science 248: 1224-1227 (1990).
Zhou et al. "Single Base Mutation in .alpha.5(IV) Collagen Chain Converting a Conserved Cysteine to Serine in Alport Syndrome," Genomics 9: 10-18 (1991).
Antignac et al. "Alport Syndrome and diffuse leiomyomatosis: Deletions in the 5' end of the COL4A5 collagen gene," Kidney Int. 42: 1178-1183 (1992).
Tryggvason et al. "Molecular genetics of Alport Syndrome," Kidney Int. 43: 38-44 (1993).
Cochat et al. "Diffuse Leiomyomatosis in Alport Syndrome," Journ. of Pediatrics 113(2):339-343 (1988).
Netzer et al. "Deletions of the COL4A5 gene in patients with Alport syndrome," Kidney Int. vol. 42: 1336-1344 (1992).
Zhou et al. (1993) "Deletion of the paired alpha5(IV) and alpha6(IV) collagen genes in inherited smooth muscle tumors" Science. 261:1167-1169, Aug. 1993.
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