Mammalian Genome

, Volume 11, Issue 6, pp 428–435

Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever

  • Jae Jin  Chae
  • Michael  Centola
  • Ivona  Aksentijevich
  • Amalia  Dutra
  • Maiyen  Tran
  • Geryl  Wood
  • Kanneboyina  Nagaraju
  • Douglas William  Kingma
  • P. Paul  Liu
  • Daniel L.  Kastner
Article

Abstract.

Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. Recently the FMF gene (MEFV) was cloned; the protein product, pyrin/marenostrin, is thought to regulate inflammation in myeloid cells. In this manuscript we report the mouse and rat homologs of MEFV. The murine gene contains ten exons with a coding sequence of 2304 bp, while the rat homolog has nine exons with a coding sequence of 2253 bp. A considerable amino acid sequence homology was observed between the mouse and human (47.6% identity and 65.5% similarity) and between the mouse and rat genes (73.5% identity and 82.1% similarity). The predicted rodent proteins have several important domains and signals found in human pyrin, including a B-box zinc finger domain, Robbins-Dingwall nuclear localization signal, and coiled-coil domain. However, perhaps because of an ancient frame-shift mutation, neither the mouse nor the rat protein has an intact C-terminal B30.2 domain, in which most FMF-associated mutations have been found in human MEFV. Nevertheless, like the human gene, mouse Mefv is expressed in peripheral blood granulocytes but not lymphocytes. Consistent with its expression in granulocytes, Mefv was detected at high levels in the primary follicles and marginal zones of the splenic white pulp. Mefv is localized on mouse Chromosome (Chr) 16, region A3-B1, extending a region of synteny with human Chr 16p13.3. Development of knockout and knockin mouse models may provide further insights into the functional evolution of this gene.

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Copyright information

© Springer-Verlag New York Inc. 2000

Authors and Affiliations

  • Jae Jin  Chae
    • 1
  • Michael  Centola
    • 1
  • Ivona  Aksentijevich
    • 1
  • Amalia  Dutra
    • 2
  • Maiyen  Tran
    • 3
  • Geryl  Wood
    • 1
  • Kanneboyina  Nagaraju
    • 1
  • Douglas William  Kingma
    • 3
  • P. Paul  Liu
    • 4
  • Daniel L.  Kastner
    • 1
  1. 1.Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Building 10, Room 9N-214, Bethesda, Maryland 20892-1820, USAUS
  2. 2.Cytogenetics and Confocal Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USAUS
  3. 3.Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USAUS
  4. 4.Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USAUS

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