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A candidate gene for familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.

Pubmed ID: 9288094


  • French FMF Consortium


Nature genetics

Publication Data

September 2, 1997

Associated Grants


Mesh Terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cattle
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Cosmids
  • Cytoskeletal Proteins
  • DNA Primers
  • Familial Mediterranean Fever
  • Female
  • France
  • Genes, Recessive
  • Genetic Markers
  • Genetic Variation
  • Heterozygote
  • Humans
  • Male
  • Mediterranean Region
  • Membrane Glycoproteins
  • Mice
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Point Mutation
  • Polymerase Chain Reaction
  • Protein Biosynthesis
  • Proteins
  • Reproducibility of Results
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Transcription, Genetic