Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Fibronectin splice variants: Understanding their multiple roles in health and disease using engineered mouse models

Fibronectin splice variants: Understanding their multiple roles in health and disease using... The extracellular matrix (ECM) is a highly dynamic network of proteins, glycoproteins, and proteoglycans. Numerous diseases result from mutation in genes coding for ECM proteins, but only recently it has been reported that mutations in the fibronectin (FN) gene were associated with a human disorder. FN is one of the main components of the ECM. It generates protein diversity through alternative splicing of a single pre‐mRNA, having at least 20 different isoforms in humans. The precise function of these protein isoforms has remained obscure in most cases. Only in the recent few years, it was possible to shed light on the multiple roles of the alternatively spliced FN isoforms. This substantial progress was achieved basically with the knowledge derived from engineered mouse models bearing subtle mutations in specific FN domains. These data, together with a recent report associating mutations in the FN gene to a form of glomerulopathy, clearly show that mutations in constitutive exons or misregulation of alternatively spliced domains of the FN gene may have nonlethal pathological consequences. In this review, we focus on the pathological consequences of mutations in the FN gene, by connecting the function of alternatively spliced isoforms of fibronectin to human diseases. © 2011 IUBMB IUBMB Life, 63(7): 538–546, 2011 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png IUBMB Life Wiley

Fibronectin splice variants: Understanding their multiple roles in health and disease using engineered mouse models

Ovádi, Judit
IUBMB Life , Volume 63 (7) – Jul 1, 2011
Download PDF
9 pages

Loading next page...
 
/lp/wiley/fibronectin-splice-variants-understanding-their-multiple-roles-in-MqmgFVTlJb

References (83)

Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2011 Wiley Periodicals, Inc.
ISSN
1521-6543
eISSN
1521-6551
DOI
10.1002/iub.493
pmid
21698758
Publisher site
See Article on Publisher Site

Abstract

The extracellular matrix (ECM) is a highly dynamic network of proteins, glycoproteins, and proteoglycans. Numerous diseases result from mutation in genes coding for ECM proteins, but only recently it has been reported that mutations in the fibronectin (FN) gene were associated with a human disorder. FN is one of the main components of the ECM. It generates protein diversity through alternative splicing of a single pre‐mRNA, having at least 20 different isoforms in humans. The precise function of these protein isoforms has remained obscure in most cases. Only in the recent few years, it was possible to shed light on the multiple roles of the alternatively spliced FN isoforms. This substantial progress was achieved basically with the knowledge derived from engineered mouse models bearing subtle mutations in specific FN domains. These data, together with a recent report associating mutations in the FN gene to a form of glomerulopathy, clearly show that mutations in constitutive exons or misregulation of alternatively spliced domains of the FN gene may have nonlethal pathological consequences. In this review, we focus on the pathological consequences of mutations in the FN gene, by connecting the function of alternatively spliced isoforms of fibronectin to human diseases. © 2011 IUBMB IUBMB Life, 63(7): 538–546, 2011

Journal

IUBMB Life – Wiley

Published: Jul 1, 2011

There are no references for this article.