Journal
GENOMICS
Volume 83, Issue 3, Pages 461-472Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2003.08.023
Keywords
fibrillin; Weill-Marchesani syndrome; Marfan syndrome; microfibril; elastic fiber; heritable disorders of connective tissue; extracellular matrix
Funding
- NIAMS NIH HHS [AR46811] Funding Source: Medline
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The human genome contains three fibrillins: FBN1 and FBN2, both well characterized, and FBN3, reported only as a cDNA sequence. Like FBN2, the highest expression levels of FBN3 were found in fetal tissues, with only low levels in postnatal tissues. Immunolocalization demonstrated fibrillin-3 in extracellular microfibrils abundant in developing skeletal elements, skin, lung, kidney, and skeletal muscle. Unlike the other two fibrillins, FBN3 expression is high in brain, and FBN3 is alternatively spliced, removing the exon encoding cbEGF2. Like FBN1, FBN3 contains three alternate exons in the 5' UTR. While FBN3 orthologs were identified in cow and chicken, Fbn3 appears to have been inactivated in the mouse genome, perhaps during chromosome fission events. Located on chromosome 19p13.3-13.2, FBN3 is a candidate gene for Weill - Marchesani syndrome. (C) 2003 Elsevier Inc. All rights reserved.
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