Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11402
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Type: Journal article
Title: Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever
Author: Aksentijevich, I.
Centola, M.
Deng, Z.
Sood, R.
Balow, J.
Wood, G.
Zaks, N.
Mansfield, E.
Chen, X.
Eisenberg, S.
Vedula, A.
Shafran, N.
Raben, N.
Pras, E.
Pras, M.
Kastner, D.
Blake, T.
Baxevanis, A.
Robbins, C.
Krizman, D.
et al.
Citation: Cell, 1997; 90(4):797-807
Publisher: MIT Press
Issue Date: 1997
ISSN: 0092-8674
1097-4172
Abstract: Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by dramatic episodes of fever and serosal inflammation. This report describes the cloning of the gene likely to cause FMF from a 115-kb candidate interval on chromosome 16p. Three different missense mutations were identified in affected individuals, but not in normals. Haplotype and mutational analyses disclosed ancestral relationships among carrier chromosomes in populations that have been separated for centuries. The novel gene encodes a 3.7-kb transcript that is almost exclusively expressed in granulocytes. The predicted protein, pyrin, is a member of a family of nuclear factors homologous to the Ro52 autoantigen. The cloning of the FMF gene promises to shed light on the regulation of acute inflammatory responses.
Keywords: Chromosomes, Human, Pair 16; Animals; Humans; Familial Mediterranean Fever; Proteins; Chromosome Mapping; Cloning, Molecular; DNA Mutational Analysis; Amino Acid Sequence; Sequence Homology, Amino Acid; Haploidy; Mutation; Molecular Sequence Data
Description: Available online 21 December 2000.
Rights: Copyright © 1997 Cell Press. Published by Elsevier Inc. All rights reserved.
RMID: 0030004337
DOI: 10.1016/S0092-8674(00)80539-5
Appears in Collections:Genetics publications

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