Revised genomic organization of FBN1 and significance for regulated gene expression

Nancy Jensen Biery, Zayd A. Eldadah, Clara S. Moore, Gail Stetten, Forrest Spencer, Harry C. Dietz

Research output: Contribution to journalArticlepeer-review

79 Scopus citations


FBN1 encodes fibrillin-1, an extracellular matrix protein that is defective in Marfan syndrome. This gene is divided into 65 exons and was previously reported to be approximately 110 kb in length. The existence of 3 exons upstream of the exon containing the putative initiating methionine left open the possibility of alternative fibrillin-1 isoforms that vary at their N-termini. Detailed examination of YACs containing human FBN1 reveal that the gene is 200 kb, almost twice as large as previously thought. Characterization of the porcine FBN1 cDNA and 5' flanking sequence demonstrates extreme conservation between the pig and the human predicted proteins and argues against the possibility of alternative amino-terminal coding sequence. These data further our understanding of the regulatory requirements for gene expression and establish a framework for recombinant expression of fibrillin- 1.

Original languageEnglish (US)
Pages (from-to)70-77
Number of pages8
Issue number1
StatePublished - Feb 15 1999

ASJC Scopus subject areas

  • Genetics


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