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.
Publication types
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Multicenter Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Butyrophilins
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Cattle
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Chromosome Mapping
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Chromosomes, Artificial, Yeast
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Cosmids
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Cytoskeletal Proteins
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DNA Primers
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Familial Mediterranean Fever / genetics*
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Female
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France
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Genes, Recessive
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Genetic Markers
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Genetic Variation
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Heterozygote
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Humans
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Male
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Mediterranean Region
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Membrane Glycoproteins / chemistry
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Membrane Glycoproteins / genetics
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Mice
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Microsatellite Repeats
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Molecular Sequence Data
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Point Mutation*
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Polymerase Chain Reaction
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Protein Biosynthesis
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Proteins / chemistry
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Proteins / genetics*
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Pyrin
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Reproducibility of Results
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Sequence Alignment
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Sequence Homology, Amino Acid
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Transcription, Genetic
Substances
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Butyrophilins
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Cytoskeletal Proteins
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DNA Primers
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Genetic Markers
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MEFV protein, human
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Mefv protein, mouse
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Membrane Glycoproteins
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Proteins
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Pyrin
Associated data
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GENBANK/Y14441
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GENBANK/Y14442
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GENBANK/Y14443