Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene

Détails

ID Serval
serval:BIB_5BDCB3B57885
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene
Périodique
Biochemical and Biophysical Research Communications
Auteur(s)
Schorderet  D. F., Menasche  M., Morand  S., Bonnel  S., Buchillier  V., Marchant  D., Auderset  K., Bonny  C., Abitbol  M., Munier  F. L.
ISSN
0006-291X (Print)
Statut éditorial
Publié
Date de publication
08/2000
Volume
274
Numéro
2
Pages
267-74
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug 2
Résumé
Mutations in human BIGH3 (TGFB1), a gene identified after treatment of an adenocarcinoma cell line with TGF-beta, have been observed in patients with granular Groenouw type I, Reis-Bucklers, 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 arches 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.
Mots-clé
Animals Base Sequence Conserved Sequence Embryo/embryology/metabolism Exons *Extracellular Matrix Proteins *Gene Expression Regulation, Developmental Genomic Library Humans In Situ Hybridization Introns Mice Molecular Sequence Data Neoplasm Proteins/*biosynthesis/*genetics Organ Specificity *Transforming Growth Factor beta
Pubmed
Web of science
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 14:14
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