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

Genomics. 1995 Mar 1;26(1):47-54. doi: 10.1016/0888-7543(95)80081-v.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Blotting, Western
  • Cattle
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5 / genetics*
  • Cloning, Molecular
  • Contractile Proteins / biosynthesis
  • Contractile Proteins / genetics*
  • Cricetinae
  • Extracellular Matrix Proteins / genetics
  • Female
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA Splicing Factors
  • Rabbits
  • Recombinant Fusion Proteins
  • Sequence Homology, Nucleic Acid

Substances

  • Contractile Proteins
  • Extracellular Matrix Proteins
  • RNA Splicing Factors
  • Recombinant Fusion Proteins
  • microfibrillar protein
  • MFAP3 protein, human

Associated data

  • GENBANK/L35250
  • GENBANK/L35251