On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies

Investigative Ophthalmology and Visual Science

Volumn 40, Issue 10, 1999, Pages 2213-2219

  Korvatska, Elena ^d   Munier, Francis L ^c   Chaubert, Pascal ^d   Wang, Ming X ^a   Mashima, Yukihiko ^b   Yamada, Masakazu ^b   Uffer, Sylvie ^d   Zografos, Leonidas ^d   Schorderet, Daniel F ^d  

^a VANDERBILT UNIVERSITY   (United States)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; GENE PRODUCT; RABBIT ANTISERUM;

ARTICLE; CHROMOSOME 5Q; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; FIBROBLAST; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOHISTOLOGY; KERATOPLASTY; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL;

AMYLOID; ANIMALS; BLOTTING, WESTERN; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 5; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA PRIMERS; EXTRACELLULAR MATRIX PROTEINS; FIBROBLASTS; HUMANS; IMMUNOENZYME TECHNIQUES; KERATOPLASTY, PENETRATING; LINKAGE (GENETICS); MUTATION, MISSENSE; NEOPLASM PROTEINS; PEPTIDE FRAGMENTS; RABBITS; TRANSFORMING GROWTH FACTOR BETA;

EID: 0039788641     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Eiberg H, Moller HU, Berendt I, Mohr J. Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. Eur J Hum Genet. 1994;2:132-138.
2. Stone EM, Mathers WD, Rosenwasser GOD, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994;6:47-51.
3. Gregory CY, Evans K, Bhattacharya SS. Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval J Med Genet. 1995;32:224-226.
4. Small KW, Mullen L, Barletta J, et al. Mapping of Reis-Bucklers' corneal dystrophy to chromosome 5q. Am J Ophthalmol. 1996; 121:384-390.
5. Korvatska E, Munier FL, Zografos L, et al. Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX. Eur J Hum Genet. 1996;4:214-218.
6. Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15:247-251.
7. Korvatska E, Munier FL, Djemaï A, et al. Mutation hotspots in 5q31-linked corneal dystrophies. Am J Hum Genet. 1998;62:320-324.
8. Yamamoto S, Okada M, Tsjuikawa M, et al. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 1998;62:719-722.
9. Sommer JR, Wong F, Klintworth GK. Phenotypic variations of corneal dystrophies caused by different mutations in the βig-h3 gene [ARVO Abstract]. Invest Ophthalmol Vis Sci. 1998;39(4): S513. Abstract nr 2347.
10. Ridgway AEA, Moller HU. Genetics of granular dystrophy. Ophthalmology 1992;99:1753.
11. Klintworth GK. Lattice corneal dystrophy: an inherited variety of amyloidosis restricted to the cornea. Am J Pathol. 1967;50:371-399.
12. Holland EJ, Daya SM, Stone EM, et al. Avellino corneal dystrophy: clinical manifestations and natural history. Ophthalmology. 1992; 99:1564-1568.
13. Hall P. Reis-Bucklers dystrophy. Arch Ophthalmol. 1974;91:170-173.
14. Rodrigues MM, Krachmer MD. Recent advances in corneal stromal dystrophies. Cornea. 1988;7:19-29.
15. Stock EL, Feder RS, O'Grady RB, Sugar J, Roth SI. Lattice corneal dystrophy type IIIA. Arch Ophthalmol. 1991;109:354-358.
16. Sternberger LA, Hardy PH, Cuculis J, Meyer HG. The unlabeled antibody enzyme method of immunohistochemistry. Preparation and properties of soluble antigen-antibody complex (horseradish peroxidase-antihorseradish peroxidase) and its use in identification of spirochetes. J Histochem Cytochem. 1970;18:315-333.
17. Klintworth GK, Valnickova Z, Enghild JJ. Accumulation of beta ig-h3 gene product in corneas with granular dystrophy. Am J Pathol. 1998;152:743-748.
18. LeBaron RG, Bezverkov KI, Zimber MP, Pavelec R, Skonier J, Purchio AF. Beta IG-H3, a novel secretary protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro. J Invest Dermatol. 1995;104:844-849.
19. Elghetany MT, Saleem A. Methods for staining amyloid in tissues. Stain Technol. 1988;63:201-212.
20. Mashima Y, Imamura Y, Konishi M, et al. Homogeneity of keratoepithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. Am J Hum Genet. 1997; 61:1448-1450.
21. Gupta SK, Hogde WG, Damji KF, Guernsey DL, Nuemann PE. Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124Cys mutation in the kerato-epithelin gene. Am J Opthalmol. 1998;125:547-549.
22. Sipe JD. Amyloidosis. Crit Rev Clin Lab Sci. 1994;31:325-354.
23. Kelly JW. Amyloid fibril formation and protein misassembly: a structural quest for insights into amyloid and prion diseases. Structure. 1997;5:595-600.
24. Takacs L, Boross P, Tozser J, Modis L, Toth G, Berta A. Transforming growth factor-beta induced protein, BetaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I Exp Eye Res. 1998;66:739-745.
25. Ghiso J, Wisniewski T, Vidal R, Rostagno A, Frangione B. Epitope map of two polyclonal antibodies that recognize amyloid lesion in patients with Alzheimer's disease. Biochem J. 1992;282:517-522.
26. Reig S, Buee-Scherrer V, Mourton-Gilles C, et al. Immunogold labeling of paired helical filaments and amyloid fibrils by specific monoclonal and polyclonal antibodies. Acta Neuropathol. 1995; 90:441-447.
27. Tsuzuki K, Fukatsu R, Takamaru Y, Fujii N, Takahata N. Potentially amyloidogenic fragment of 50 kDa and intracellular processing of amyloid precursor protein in cells cultured under leupeptin. Brain Res. 1994;659:213-220.
28. Yanagisawa K, McLaurin JA, Michikawa M, Chakrabartty A, Ihara Y. Amyloid beta-protein (Aβ) associated with lipid molecules: immunoreactivity distinct from that of soluble Aβ. FEBS Lett. 1997;420:43-46.
29. Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF. cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol. 1992;11:511-522.
30. Escribano J, Hernando N, Ghosh S, Crabb J, Coca-Prados M. cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol. 1994;160:511-521.
31. Miller CA, Krachmer JH. Epithelial and stromal dystrophies. In: Kaufman HE, Barron BA, McDonald MB, Waltman SR, eds. The Cornea New York: Churchill-Livingstone, 1988:44-70.
32. Hirano K, Klintworth GK, Zhan Q, Bennett K, Cintron C. Beta ig-h3 is synthesized by corneal epithelium and perhaps endothelium in Fuchs' dystrophic corneas. Curr Eye Res. 1996;15:965-972.