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 extracellular matrix of many tissues. To extend our understanding of the proteins composing these microfibrils, the cDNA and gene encoding the human associated microfibril protein (MFAP1) have been cloned and characterized. The coding portion is contained in 9 exons, and the sequence is very homologous to the previously described chick cDNA, but does not appear to share homology or domain motifs with any other known protein. Interestingly, the gene has been localized to chromosome 15q15-q21 by somatic hybrid cell and chromosome in situ analyses. This is the same chromosomal region to which the fibrillin gene, FBN1, known to be defective in the Marfan syndrome, has been mapped. MFAP1 is a candidate gene for heritable diseases affecting microfibrils.
Department of Anatomy and Histology, School of Dental Medicine, University of Pennsylvania, Philadelphia 19104.
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Yeh
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Chow
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Abrams
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Fan
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Foster
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Mitchell
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Muenke
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Rosenbloom
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D016384:Consensus Sequence; D003285:Contractile Proteins / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D004547:Elastic Tissue / Q000378:metabolism; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000378:metabolism; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D000072260:RNA Splicing Factors; D054392:Adipokines
D003285:Contractile Proteins; D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D000072260:RNA Splicing Factors; C000605722:FBN1 protein, human; D054392:Adipokines; C016598:microfibrillar protein