A model of FAS1 domain 4 of the corneal protein βig-h3 gives a clearer view on corneal dystrophies

Molecular Vision

Volumn 9, Issue , 2003, Pages 440-448

  Clout, Naomi J ^a   Hohenester, Erhard ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; EYE PROTEIN; FAS ANTIGEN; FASCICLIN I; GENE PRODUCT; INTEGRIN; TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; CHROMOSOME 5Q; CONTROLLED STUDY; CORNEA DYSTROPHY; GENETIC LINKAGE; MISSENSE MUTATION; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION; RECEPTOR BINDING; STRUCTURE ANALYSIS;

AMINO ACID SEQUENCE; BINDING SITES; CELL ADHESION MOLECULES, NEURONAL; CHROMOSOMES, HUMAN, PAIR 5; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MOLECULAR STRUCTURE; MUTATION; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN INTERACTION MAPPING; TRANSFORMING GROWTH FACTOR BETA;

EID: 0346670134     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. 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; 11:511-22.
2. Arnaout MA, Goodman SL, Xiong JP. Coming to grips with integrin binding to ligands. Curr Opin Cell Biol 2002; 14:641-51.
3. Zinn K, McAllister L, Goodman CS. Sequence analysis and neuronal expression of fasciclin I in grasshopper and Drosophila. Cell 1988; 53:577-87.
4. Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997; 15:247-51.
5. Clout NJ, Tisi D, Hohenester E. Novel Fold Revealed by the Structure of a FAS1 Domain Pair from the Insect Cell Adhesion Molecule Fasciclin I. Structure (Camb) 2003; 11:197-203.
6. 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; 160:511-21.
7. Schorderet DF, Menasche M, Morand S, Bonnel S, Buchillier V, Marchant D, Auderset K, Bonny C, Abitbol M, Munier FL. Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene. Biochem Biophys Res Commun 2000; 274:267-74.
8. Gibson MA, Kumaratilake JS, Cleary EG. Immunohistochemical and ultrastructural localization of MP78/70 (betaig-h3) in extracellular matrix of developing and mature bovine tissues. J Histochem Cytochem 1997; 45:1683-96.
9. LeBaron RG, Bezverkov KI, Zimber MP, Pavelec R, Skonier J, Purchio AF. Beta IG-H3, a novel secretory 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; 104:844-9.
10. Schmitt-Bernard CF, Schneider C, Argiles A. Clinical, histopathologic, and ultrastructural characteristics of BIGH3(TGFBI) amyloid corneal dystrophies are supportive of the existence of a new type of LCD: the LCDi. Cornea 2002; 21:463-8.
11. Hirano K, Klintworth GK, Zhan Q, Bennett K, Cintron C. Beta ig-h3 is synthesized by corneal epithelium and perhaps endotheliumin Fuchs' dystrophic corneas. Curr Eye Res 1996; 15:965-72.
12. Streeten BW, Qi Y, Klintworth GK, Eagle RC Jr, Strauss JA, Bennett K. Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas. Arch Ophthalmol 1999; 117:67-75.
13. Leung EW, Rife L, Smith RE, Kay EP. Extracellular matrix components in retrocorneal fibrous membrane in comparison to corneal endothelium and Descemet's membrane. Mol Vis 2000; 6:15-23 .
14. El-Shabrawi Y, Kublin CL, Cintron C. mRNA levels of alpha1(VI) collagen, alpha1 (XII) collagen, and beta ig in rabbit cornea during normal development and healing. Invest Ophthalmol Vis Sci 1998; 39:36-44.
15. Skonier J, Bennett K, Rothwell V, Kosowski S, Plowman G, Wallace P, Edelhoff S, Disteche C, Neubauer M, Marquardt H, et al. beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. DNA Cell Biol 1994; 13:571-84.
16. Dieudonne SC, Kerr JM, Xu T, Sommer B, DeRubeis AR, Kuznetsov SA, Kim IS, Gehron Robey P, Young MF. Differential display of human marrow stromal cells reveals unique mRNA expression patterns in response to dexamethasone. J Cell Biochem 1999; 76:231-43.
17. Kim JE, Kim EH, Han EH, Park RW, Park IH, Jun SH, Kim JC, Young MF, Kim IS. A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis. J Cell Biochem 2000; 77:169-78.
18. Hashimoto K, Noshiro M, Ohno S, Kawamoto T, Satakeda H, Akagawa Y, Nakashima K, Okimura A, Ishida H, Okamoto T, Pan H, Shen M, Yan W, Kato Y. Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen. Biochim Biophys Acta 1997; 1355:303-14.
19. Rawe IM, Zhan Q, Burrows R, Bennett K, Cintron C. Beta-ig. Molecular cloning and in situ hybridization in corneal tissues. Invest Ophthalmol Vis Sci 1997; 38:893-900.
20. Billings PC, Whitbeck JC, Adams CS, Abrams WR, Cohen AJ, Engelsberg BN, Howard PS, Rosenbloom J. The transforming growth factor-beta-inducible matrix protein (beta)ig-h3 interacts with fibronectin. J Biol Chem 2002; 277:28003-9.
21. Ohno S, Noshiro M, Makihira S, Kawamoto T, Shen M, Yan W, Kawashima-Ohya Y, Fujimoto K, Tanne K, Kato Y. RGD-CAP ((beta)ig-h3) enhances the spreading of chondrocytes and fibroblasts via integrin alpha(1)beta(1). Biochim Biophys Acta 1999; 1451:196-205.
22. Kim JE, Kim SJ, Lee BH, Park RW, Kim KS, Kim IS. Identification of motifs for cell adhesion within the repeated domains of transforming growth factor-beta-induced gene, betaig-h3. J Biol Chem 2000; 275:30907-15.
23. Kim JE, Jeong HW, Nam JO, Lee BH, Choi JY, Park RW, Park JY, Kim IS. Identification of motifs in the fasciclin domains of the transforming growth factor-beta-induced matrix protein betaig-h3 that interact with the alphavbeta5 integrin. J Biol Chem 2002; 277:46159-65.
24. Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994; 6:47-51.
25. Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Heon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 2002; 43:949-54.
26. Mashima Y, Imamura Y, Konishi M, Nagasawa A, Yamada M, Oguchi Y, Kudoh J, Shimizu N. Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. Am J Hum Genet 1997; 61:1448-50.
27. Mashima Y, Konishi M, Nakamura Y, Imamura Y, Yamada M, Ogata T, Kudoh J, Shimizu N. Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients. Br J Ophthalmol 1998; 82:1280-4.
28. Korvatska E, Munier FL, Djemai A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 1998; 62:320-4.
29. Okada M, Yamamoto S, Inoue Y, Watanabe H, Maeda N, Shimomura Y, Ishii Y, Tano Y. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci 1998; 39:1947-53.
30. Okada M, Yamamoto S, Watanabe H, Inoue Y, Tsujikawa M, Maeda N, Shimomura Y, Nishida K, Kinoshita S, Tano Y. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. Am J Ophthalmol 1998; 126:169-76.
31. Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol 1999; 128:747-54.
32. Klintworth GK. The molecular genetics of the corneal dystrophies-current status. Front Biosci 2003; 8:d687-713.
33. Kuchle M, Green WR, Volcker HE, Barraquer J. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea 1995; 14:333-54.
34. Afshari NA, Mullally JE, Afshari MA, Steinert RF, Adamis AP, Azar DT, Talamo JH, Dohlman CH, Dryja TP. Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol 2001; 119:16-22.
35. Gupta SK, Hodge WG. A new clinical perspective of corneal dystrophies through molecular genetics. Curr Opin Ophthalmol 1999; 10:234-41.
36. Siddiqui N, Afshari NA. The changing face of the genetics of corneal dystrophies. Curr Opin Ophthalmol 2002; 13:199-203.
37. Sali A, Blundell TL. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993; 234:779-815.
38. Fiser A, Do RK, Sali A. Modeling of loops in protein structures. Protein Sci 2000; 9:1753-73.
39. Koradi R, Billeter M, Wuthrich K. MOLMOL: a program for display and analysis of macromolecular structures. J Mol Graph 1996; 14:51-5,29-32.
40. Laskowski RA, MacArthur MW, Moss DS, Thornton JM. PROCHECK: a program to check the stereochemical quality of protein structures. Journal of Applied Crystallography 1993; 26:283-291.
41. Sasaki T, Hohenester E, Zhang RZ, Gotta S, Speer MC, Tandan R, Timpl R, Chu ML. A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding. FASEB J 2000; 14:761-8.
42. Wilson R, Freddi S, Bateman JF. Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells. J Biol Chem 2002; 277:12516-24.
43. Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King J, Benedek GB. Crystal cataracts: human genetic cataract caused by protein crystallization. Proc Natl Acad Sci U S A 2001; 98:6116-20.
44. Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 2003; 278:28139-46.
45. Marcon AS, Cohen EJ, Rapuano CJ, Laibson PR. Recurrence of corneal stromal dystrophies after penetrating keratoplasty. Cornea 2003; 22:19-21.
46. Fagerholm P. Phototherapeutic keratectomy: 12 years of experience. Acta Ophthalmol Scand 2003; 81:19-32.