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PMID: 9288094 Published · ppublish English Journal Article Multicenter Study Research Support, Non-U.S. Gov't

A candidate gene for familial Mediterranean fever.

Nature genetics ·Vol. 17 ·No. 1 ·1997-09-00 ·Pages 25-31

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 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

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

Chemicals

Butyrophilins Cytoskeletal Proteins DNA Primers Genetic Markers MEFV protein, human Mefv protein, mouse Membrane Glycoproteins Proteins Pyrin

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

French FMF Consortium

Investigators

28 investigators, click to expand

Bernot A

Clepet C

Dasilva C

Devaud C

Petit J L

Caloustian C

Cruaud C

Samson D

Pulcini F

Weissenbach J

Heilig R

Notanicola C

Domingo C

Rozenbaum M

Benchetrit E

Topaloglu R

Dewalle M

Dross C

Hadjari P

Dupont M

Demaille J

Touitou I

Smaoui N

Nedelec B

Méry J P

Chaabouni H

Delpech M

Grateau G

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0997-25

Published

1997-09-00

Pages

25-31

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

Y14441, Y14442, Y14443

External Links

PubMed source DOI: 10.1038/ng0997-25 View journal details

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A candidate gene for familial Mediterranean fever.

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