Genomic Characterization and Embryonic Expression of the Mouse Bigh3 (Tgfbi) Gene

• Published in: Biochemical and biophysical research communications 2000-08, Vol.274 (2), p.267-274
• Main Authors: Schorderet, Daniel F., Menasche, Maurice, Morand, Sabine, Bonnel, Sébastien, Büchillier, Valérie, Marchant, Dominique, Auderset, Katya, Bonny, Christophe, Abitbol, Marc, Munier, Francis L.
• Format: Article
• Language: English
• Subjects: Animals; Avellino; Base Sequence; Bigh3; Bigh3 gene; chromosome 13; chromosome 5; Conserved Sequence; corneal dystrophy; Embryo, Mammalian - embryology; Embryo, Mammalian - metabolism; Exons; Extracellular Matrix Proteins; gene expression; Gene Expression Regulation, Developmental; Genomic Library; Groenouw type I; Humans; In Situ Hybridization; Introns; Lattice type I; Lattice type IIIa; Mice; Molecular Sequence Data; Neoplasm Proteins - biosynthesis; Neoplasm Proteins - genetics; Organ Specificity; Reis-Buecklers; TGFBI; Thiel-Behnke; Transforming Growth Factor beta
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1006/bbrc.2000.3116

Mutations in human BIGH3 (TGFB1), a gene identified after treatment of an adenocarcinoma cell line with TGF-β, have been observed in patients with granular Groenouw type I, Reis–Bücklers, Thiel–Behnke, Avellino, and Lattice type I and IIIa, six autosomal dominant corneal dystrophies linked to chromosome 5q. In order to gain insight into the physiological role of this gene, we characterized the genomic structure of the mouse Bigh3 and its expression in murine embryos. The gene spans 30 kb on mouse chromosome 13 and has 17 exons. Embryonic expression of Bigh3 is observed in the mesenchyme of the first and second branchial archs as early as dpc 11.5 and is particularly strong in the mesenchyme of numerous tissues throughout all the development stages. In fetal eye, the expression is first seen at 11.5 dpc in the mesenchyme surrounding the optic stalk, extends toward the sclera and choroid by 14.3 dpc and reaches the cornea by 17.5 dpc. Because the physiological role of BIGH3/Bigh3 is still largely unknown, embryonic expression in organs like heart, vessels, and intestine may help to identify new functions which could be searched for in patients and in knock-out animal models. The characterization of the murine structure is a prerequisite for the making of such models.