title: A candidate gene for familial Mediterranean fever.
abstract: 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.
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D000071797:Butyrophilins; D002417:Cattle; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D003360:Cosmids; D003598:Cytoskeletal Proteins; D017931:DNA Primers; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005602:France; D005808:Genes, Recessive; D005819:Genetic Markers; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D019083:Mediterranean Region; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics; D051379:Mice; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D000071198:Pyrin; D015203:Reproducibility of Results; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic
chemical_list: D000071797:Butyrophilins; D003598:Cytoskeletal Proteins; D017931:DNA Primers; D005819:Genetic Markers; C000604192:MEFV protein, human; C000604193:Mefv protein, mouse; D008562:Membrane Glycoproteins; D011506:Proteins; D000071198:Pyrin