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Title: Pyrin gene and mutants thereof, which cause familial Mediterranean fever

Patent ·
OSTI ID:973152
 [1];  [1];  [2];  [3];  [4];  [4];  [5];  [6];  [7];  [8];  [9];  [10];  [11];  [12]
  1. Bethesda, MD
  2. Tacoma Park, MD
  3. Gaithersburg, MD
  4. Rockville, MD
  5. Laytonsville, MD
  6. Ellicott City, MD
  7. Los Angeles, CA
  8. Ann Arbor, MI
  9. North Adelaide, AU
  10. San Diego, CA
  11. Santa Cruz, NM
  12. Tel-Hashomer, IL
+ Show Author Affiliations

The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A. Additionally, the invention includes methods for diagnosing a patient at risk for having FMF and kits therefor.

Research Organization:
Los Alamos National Laboratory (LANL), Los Alamos, NM (United States)
Sponsoring Organization:
USDOE
DOE Contract Number:
W-7405-ENG-36
Assignee:
The United States of America as represented by the Department of Health and Human Services (Washington, DC); N/A (Los Angeles, CA); Cedars-Sinai Medical Center (Oakland, CA); University of California (Ann Arbor, MI); University of Michigan (North Adelaide, AU); Women's and Children's Hospital (Tel-Hashomer, IL); Heller Institute for Medical Research
Patent Number(s):
6,627,745
Application Number:
09/486,147
OSTI ID:
973152
Country of Publication:
United States
Language:
English

References (7)

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF) journal August 1998
Construction of a 1-Mb Restriction-Mapped Cosmid Contig Containing the Candidate Region for the Familial Mediterranean Fever Locus (MEFV) on Chromosome 16p13.3 journal May 1997
A Transcriptional Map of the FMF Region journal June 1998
Molecular Genetic Testing for Familial Mediterranean Fever journal September 2000
Familial Mediterranean Fever: From the Clinical Syndrome to the Cloning of the Pyrin Gene: EDITORIAL REVIEW journal January 1998
Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever journal August 1997
A candidate gene for familial Mediterranean fever journal September 1997

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59 BASIC BIOLOGICAL SCIENCES