Elsevier

Genomics

Volume 56, Issue 1, 15 February 1999, Pages 70-77
Genomics

Regular Article
Revised Genomic Organization ofFBN1and Significance for Regulated Gene Expression,☆☆

https://doi.org/10.1006/geno.1998.5697Get rights and content
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Abstract

FBN1encodes 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 humanFBN1reveal that the gene is 200 kb, almost twice as large as previously thought. Characterization of the porcineFBN1cDNA 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.

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Sequence data from this article have been deposited with the GenBank Data Library under Accession Nos. 205427 (porcineFBN15′ UTR) and 205413 (porcineFBN1cDNA).

☆☆

H. HarrisK. Hirschorn

1

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