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 RIS Download
Mesh terms: Amino Acid Sequence | Animals | Base Sequence | Butyrophilins | 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 | Pyrin | Reproducibility of Results | Sequence Alignment | Sequence Homology, Amino Acid | Transcription, Genetic
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