STRUCTURE OF THE HUMAN GENE ENCODING THE ASSOCIATED MICROFIBRILLAR PROTEIN (MFAP1) AND LOCALIZATION TO CHROMOSOME 15Q15-Q21

Microfibrils with a diameter of 10-12 nm, found either in association with elastin or independently, are an important component of the extra cellular matrix of many tissues. To extend our understanding of the pr oteins composing these microfibrils, the cDNA and gene encoding the hu man associated microfibril protein (MFAP1) have been cloned and charac terized. The coding portion is contained in 9 exons, and the sequence is very homologous to the previously described chick cDNA, but does no t appear to share homology or domain motifs with any other known prote in. Interestingly, the gene has been localized to chromosome 15q15-q21 by somatic hybrid cell and chromosome in situ analyses. This is the s ame chromosomal region to which the fibrillin gene, FBN1, known to be defective in the Marfan syndrome, has been mapped. MFAP1 is a candidat e gene for heritable diseases affecting microfibrils. (C) 1994 Academi c Press, Inc.