A candidate gene for familial Mediterranean fever.
Journal:
Nat. Genet. 1997 SepAuthors:
French FMF Consortium
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
...[more] 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.[less]
Mesh Headings:
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