Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

Glen M. Corson, Noe L. Charbonneau, Douglas R. Keene, Lynn Y. Sakai

Research output: Contribution to journalArticle

120 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)461-472
Number of pages12
JournalGenomics
Volume83
Issue number3
DOIs
StatePublished - Mar 2004

Keywords

  • Elastic fiber
  • Extracellular matrix
  • Fibrillin
  • Heritable disorders of connective tissue
  • Marfan syndrome
  • Microfibril
  • Weill-Marchesani syndrome

ASJC Scopus subject areas

  • Genetics

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