Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2

William R. Abrams, Rong ine Ma, Umberto Kucich, Muhammad M. Bashir, Sylvia Decker, Petros Tsipouras, John Douglas Mcpherson, John J. Wasmuth, Joel Rosenbloom

Research output: Contribution to journalArticle

40 Scopus citations

Abstract

Microfibrils having 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, but characterization of these microfibrils is incomplete. To further our understanding of the gene structure of proteins composing the microfibrils and to identify their chromosomal location, we have cloned and characterized another microfibril protein, designated microfibril-associated protein-3 (MFAP3). The human gene encoding MFAP3 has a very simple structure, containing only two translated exons encoding a protein of 362 amino acids. Monospecific antibodies prepared against the recombinantly expressed protein reacted with the microfibrils found in ocular zonules. MFAP3 does not appear to share homology with any other known protein. The gene was found to be located on chromosome 5q32-q33.2, near the locus 5q21-q31 reported for the fibrillin gene, FBN2, which has been linked to congenital contractural arachnodactyly. MFAP3 is a candidate gene for heritable diseases affecting microfibrils.

Original languageEnglish (US)
Pages (from-to)47-54
Number of pages8
JournalGenomics
Volume26
Issue number1
DOIs
StatePublished - Mar 1 1995

ASJC Scopus subject areas

  • Genetics

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    Abrams, W. R., Ma, R. I., Kucich, U., Bashir, M. M., Decker, S., Tsipouras, P., Mcpherson, J. D., Wasmuth, J. J., & Rosenbloom, J. (1995). Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. Genomics, 26(1), 47-54. https://doi.org/10.1016/0888-7543(95)80081-V