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The mutations in the fibronectin gene described in japanese patients with systemic sclerosis are not present in dutch patients

✍ Scribed by Ron Verheijen; Elna H. Oberyé; Walther J. van Venrooij; Frank H. J. van den Hoogen

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
319 KB
Volume
34
Category
Article
ISSN
0004-3591

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✦ Synopsis

Recently, a mutant fibronectin gene was identified in skin fibroblasts obtained from sclerotic lesions of 7 Japanese patients with systemic sclerosis (SSc). Two point mutations were found adjacent to the cellattachment tetrapeptide DNA sequence in exon 7 of the fibronectin gene. In the present study, we investigated whether these point mutations are present in the fibronectin gene of Dutch patients with SSc. We were unable to demonstrate the point mutations in the Dutch SSc patients studied.

The glycoprotein fibronectin is important in many biologic processes including cell adhesion and migration, cytoskeletal organization, and malignant transformation. It is present at cell surfaces and in plasma and is composed of 2 similar polypeptide chains. Each chain has a molecular weight of -250 kd, and the 2 chains are linked by interchain disulfide bonds. Discrete functional domains of the fibronectin polypeptide are responsible for cell-cell interactions and for binding to extracellular components such as heparin, collagen, and fibrin. Only 1 gene for fibronectin, of 50 kilobases, has been identified. This gene consists of at least 48 exons, with an average -From the Departments of Biochemistry and Rheumatology,

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