TGFBI explained
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31.[1] [2]
Function
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion.[1]
Clinical significance
Mutations of the gene cause several forms of corneal dystrophies.[3] [4]
Further reading
- Fujiki K, Nakayasu K, Kanai A . Corneal dystrophies in Japan. . J. Hum. Genet. . 46 . 8 . 431–5 . 2001 . 11501939 . 10.1007/s100380170041 . free .
- Schmitt-Bernard CF, Pouliquen Y, Argilès A . [BIG-H3 protein: mutation of codon 124 and corneal amyloidosis] . Journal français d'ophtalmologie . 27 . 5 . 510–22 . 2004 . 15179309 . 10.1016/S0181-5512(04)96173-6 .
- Pieramici SF, Afshari NA . Genetics of corneal dystrophies: the evolving landscape. . Current Opinion in Ophthalmology . 17 . 4 . 361–6 . 2006 . 16900028 . 10.1097/01.icu.0000233955.94347.84 . 9671230 .
- Skonier J, Neubauer M, Madisen L, etal . 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. . 11 . 7 . 511–22 . 1992 . 1388724 . 10.1089/dna.1992.11.511 .
- LeBaron RG, Bezverkov KI, Zimber MP, etal . 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. . 104 . 5 . 844–9 . 1995 . 7738366 . 10.1111/1523-1747.ep12607024 . free .
- Skonier J, Bennett K, Rothwell V, etal . 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. . 13 . 6 . 571–84 . 1994 . 8024701 . 10.1089/dna.1994.13.571 .
- Escribano J, Hernando N, Ghosh S, etal . 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. . 160 . 3 . 511–21 . 1994 . 8077289 . 10.1002/jcp.1041600314 . 21442005 .
- Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
- Stone EM, Mathers WD, Rosenwasser GO, etal . Three autosomal dominant corneal dystrophies map to chromosome 5q. . Nat. Genet. . 6 . 1 . 47–51 . 1994 . 8136834 . 10.1038/ng0194-47 . 44641005 .
- Munier FL, Korvatska E, Djemaï A, etal . Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. . Nat. Genet. . 15 . 3 . 247–51 . 1997 . 9054935 . 10.1038/ng0397-247 . 19284412 .
- Hashimoto K, Noshiro M, Ohno S, etal . Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen. . Biochim. Biophys. Acta . 1355 . 3 . 303–14 . 1997 . 9061001 . 10.1016/S0167-4889(96)00147-4 .
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
- Korvatska E, Munier FL, Djemaï A, etal . Mutation hot spots in 5q31-linked corneal dystrophies. . Am. J. Hum. Genet. . 62 . 2 . 320–4 . 1998 . 9463327 . 10.1086/301720 . 1376896 .
- Yamamoto S, Okada M, Tsujikawa M, etal . A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. . Am. J. Hum. Genet. . 62 . 3 . 719–22 . 1998 . 9497262 . 10.1086/301765 . 1376959 .
- Okada M, Yamamoto S, Watanabe H, etal . Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. . Am. J. Ophthalmol. . 126 . 2 . 169–76 . 1998 . 9727509 . 10.1016/S0002-9394(98)00075-0 .
- Okada M, Yamamoto S, Tsujikawa M, etal . Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. . Am. J. Ophthalmol. . 126 . 4 . 535–42 . 1998 . 9780098 . 10.1016/S0002-9394(98)00135-4 .
- Fujiki K, Hotta Y, Nakayasu K, etal . A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. . Hum. Genet. . 103 . 3 . 286–9 . 1998 . 9799082 . 10.1007/s004390050818 . 23721847 .
- Stewart H, Black GC, Donnai D, etal . A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. . Ophthalmology . 106 . 5 . 964–70 . 1999 . 10328397 . 10.1016/S0161-6420(99)00539-4 .
- Stewart HS, Ridgway AE, Dixon MJ, etal . Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. . Hum. Mutat. . 14 . 2 . 126–32 . 1999 . 10425035 . 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W . 30001550 .
- Rozzo C, Fossarello M, Galleri G, etal . A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. . Hum. Mutat. . 12 . 3 . 215–6 . 2000 . 10660331 .
- Page L, Polok B, Bustamante M, Schorderet DF . Bigh3 is upregulated in regenerating zebrafish fin . Zebrafish . 10 . 3 . 36–42 . 2013 . 10.1089/zeb.2012.0759 . 23536989 .
Notes and References
- Web site: Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa.
- Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF . Kerato-epithelin mutations in four 5q31-linked corneal dystrophies . Nat. Genet. . 15 . 3 . 247–51 . March 1997 . 9054935 . 10.1038/ng0397-247 . 19284412 .
- Korvatska E, Munier FL, Djemaï 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. . 62 . 2 . 320–4 . February 1998 . 9463327 . 1376896 . 10.1086/301720 .
- Klintworth GK . Corneal dystrophies . Orphanet J Rare Dis . 4 . 1. 7 . 2009 . 19236704 . 2695576 . 10.1186/1750-1172-4-7 . free .