TGFBI ( English Transforming growth factor, beta-induced, 68kDa ) - human protein. TGFBI expression is induced by TGF-beta growth factor . The alternative name keratoepithelin indicates a narrowly expressed pattern of protein expression in the tissues of the eye : it is produced by corneal epithelial cells and stromal keratocytes . The gene was first described in 1997 , originally known as BIGH3 (Beta IG H3). [one]
| TGFBI | |
|---|---|
| Designations | |
| Characters | TGFBI ; CSD3, LCD1, CSD1, CSD2 |
| Entrez gene | 7045 |
| Hgnc | 11771 |
| Omim | 601692 |
| Refseq | NM_000358 |
| Uniprot | Q15582 |
| Other data | |
| Locus | 5th hr , 5q31 |
Keratoepithelin forms fibrils and interacts with collagen I, laminin , fibronectin . [2] These properties of it may determine the role of the protein in the formation of amyloid deposits during corneal dystrophies. Keratoepithelin also plays a role in the adhesion and migration of dermal fibroblasts .
Localization
According to studies in mice , during the period of development, TGFBI is expressed by tissues of the mesenchymal series: growing bones, cartilage , peribronchiolar structures, etc. It is also found in the developing heart , pancreatic beta cells, and fingers.
Clinical Importance
Several rare forms of corneal dystrophy have been associated with the genetic region in which the TGFBI gene is located. When the gene was discovered in 1997, Munier et al. noted missense mutations in patients with four forms of the disease: [1]
- Granular dystrophy of the cornea, Groenouw type 1 ( Eng. Granular dystrophy Groenouw type I , CDGG1; OMIM 121900) - a review of mutations in Kannabiran et al., 2006 [4]
- Thiel-Behnke corneal dystrophy ( English Thiel-Behnke corneal dystrophy , CDTB; OMIM 602082)
- Lattice dystrophy of the cornea, type 1 ( English Lattice corneal dystrophy type I , CDL1; OMIM 122200) - a review of mutations in Kannariban et al., 2006. [4]
- Avellino corneal dystrophy ( Avellino corneal dystrophy , CDA; OMIM 607541)
Two years later, Korvatska et al. described specific recurrent gene mutations for each of the four types of dystrophy. [five]
In patients with dystrophy of the basement membrane of the corneal epithelium in one study, two point gene mutations were noted. The authors also conducted screening , based on which they concluded that up to 10% of cases of this form of dystrophy can be associated with the TFGBI gene . [6]
A rare Bowman membrane dystrophy ( Reis Bucklers dystrophy ), [7] according to studies, in some cases is also associated with mutations of the TGFBI gene. [eight]
According to one study , TGFBI expression is increased in the cornea with bullous keratopathy . [9]
Literature
- Frank J. Larkin; Thomas Reinhard. Cornea and External Eye Disease (Essentials in Ophthalmology). - Berlin: Springer, 2008 .-- ISBN 3-540-33680-X . - TGFBI is mentioned on page 97
Notes
- ↑ 1 2 Munier FL, Korvatska E., Djemaï A., Le Paslier D., Zografos L., Pescia G., Schorderet DF Kerato-epithelin mutations in four 5q31-linked corneal dystrophies (Eng.) // Nature Genetics : journal . - 1997 .-- March ( vol. 15 , no. 3 ). - P. 247-251 . - DOI : 10.1038 / ng0397-247 . - PMID 9054935 .
- ↑ Kim JE, Park RW, Choi JY, Bae YC, Kim KS, Joo CK, Kim IS Molecular properties of wild-type and mutant betaIG-H3 proteins (Eng.) // Invest. Ophthalmol. Vis Sci. : journal. - 2002 .-- March ( vol. 43 , no. 3 ). - P. 656–661 . - PMID 11867580 . (inaccessible link)
- ↑ Klintworth GK Corneal dystrophies (English) // Orphanet Journal of Rare Diseases . - 2009. - Vol. 4 . - P. 7 . - DOI : 10.1186 / 1750-1172-4-7 . - PMID 19236704 .
- ↑ 1 2 Kannabiran C., Klintworth GK TGFBI gene mutations in corneal dystrophies (neopr.) // Hum. Mutat. . - 2006. - July ( t. 27 , No. 7 ). - S. 615-625 . - DOI : 10.1002 / humu.20334 . - PMID 16683255 .
- ↑ 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 (English) // Am. J. Hum. Genet. : journal. - 1998 .-- February ( vol. 62 , no. 2 ). - P. 320—324 . - DOI : 10.1086 / 301720 . - PMID 9463327 .
- ↑ Boutboul S., Black GC, Moore JE, Sinton J., Menasche M., Munier FL, Laroche L., Abitbol M., Schorderet DF A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI / BIGH3 .) // Hum. Mutat. : journal. - 2006 .-- June ( vol. 27 , no. 6 ). - P. 553-557 . - DOI : 10.1002 / humu.20331 . - PMID 16652336 .
- ↑ CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1 - OMIM Genetic Database
- ↑ Tanhehco TY, Eifrig DE, Schwab IR, Rapuano CJ, Klintworth GK Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene (Eng.) // Arch. Ophthalmol. : journal. - 2006 .-- April ( vol. 124 , no. 4 ). - P. 589-593 . - DOI : 10.1001 / archopht.124.4.589 . - PMID 16606891 . (inaccessible link)
- ↑ Akhtar S., Bron AJ, Hawksworth NR, Bonshek RE, Meek KM Ultrastructural morphology and expression of proteoglycans, betaig-h3, tenascin-C, fibrillin-1, and fibronectin in bullous keratopathy (Eng.) // Br J Ophthalmol : journal. - 2001 .-- June ( vol. 85 , no. 6 ). - P. 720-731 . - PMID 11371495 .
Links
- MOLECULAR-GENETIC AND KLINE-MORPHOLOGICAL ANALYSIS OF PATIENTS WITH LATERAL HEREDITARY DISTROPHY OF THE CORNAL GI Drozhzhina, V.N. Pampukha, V.V. Vit, N.E. Dumbrova, L.A. them. V.P. Filatova, Academy of Medical Sciences of Ukraine, Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, Kiev