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| Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever |
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| Author(s): Aksentijevich I, Centola M, Deng ZM, Sood R, Balow JE, Wood G, Zaks N, Mansfield E, Chen X, Eisenberg S, Vedula A, Shafran N, Raben N, Pras E, Pras M, Kastner DL, Blake T, Baxevanis AD, Robbins C, Krizman D, Collins FS, Liu PP, Chen XG, Shohat M, Hamon M, Kahan T, Cercek A, Rotter JI, FischelGhodsian N, Richards N, Shelton DA, Gumucio D, Yokoyama Y, Mangelsdorf M, Orsborn A, Richards RI, Ricke DO, Buckingham JM, Moyzis RK, Deaven LL, Doggett NA |
| Source: CELL Volume: 90 Issue: 4 Pages: 797-807 Published: AUG 22 1997 |
| Times Cited: 526 References: 48 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. NIAMSD, ARTHRIT & RHEUMATISM BRANCH, BETHESDA, MD 20892 USA
2. CHAIM SHEBA MED CTR, HELLER INST MED RES, DEPT MED C, IL-52621 TEL HASHOMER, ISRAEL
3. NHGRI, CANC GENET LAB, BETHESDA, MD 20892 USA
4. NHGRI, LAB GENE TRANSFER, BETHESDA, MD 20892 USA
5. NHGRI, GENOME TECHNOL BRANCH, BETHESDA, MD 20892 USA
6. CEDARS SINAI MED CTR, DEPT PEDIAT, LOS ANGELES, CA 90048 USA
7. CEDARS SINAI MED CTR, DEPT MED GENET, LOS ANGELES, CA 90048 USA
8. BEILINSON MED CTR, DEPT MED GENET, IL-49100 PETAH TIQWA, ISRAEL
9. UNIV MICHIGAN, DEPT ANAT & CELL BIOL, ANN ARBOR, MI 48109 USA
10. ADELAIDE WOMENS & CHILDRENS HOSP, DEPT CYTOGENET & MOL GENET, ADELAIDE, SA 5006 AUSTRALIA
11. LOS ALAMOS NATL LAB, CTR HUMAN GENOME STUDIES, LOS ALAMOS, NM 87545 USA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: XT066 |
| ISSN: 0092-8674 |
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