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

Abstract

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.

Inventors:
 [1];  [1];  [2];  [3];  [4];  [4];  [5];  [6];  [7];  [8];  [9];  [10];  [11];  [12]
+ Show Inventor Affiliations
  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
Issue Date:
Research Org.:
Los Alamos National Laboratory (LANL), Los Alamos, NM (United States)
Sponsoring Org.:
USDOE
OSTI Identifier:
973152
Patent Number(s):
6627745
Application Number:
09/486,147
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 Classifications (CPCs):
A - HUMAN NECESSITIES A01 - AGRICULTURE A01K - ANIMAL HUSBANDRY
C - CHEMISTRY C07 - ORGANIC CHEMISTRY C07K - PEPTIDES
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DOE Contract Number:  
W-7405-ENG-36
Resource Type:
Patent
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES

Citation Formats

Kastner, Daniel L, Aksentijevichh, Ivona, Centola, Michael, Deng, Zuoming, Sood, Ramen, Collins, Francis S, Blake, Trevor, Liu, P Paul, Fischel-Ghodsian, Nathan, Gumucio, Deborah L, Richards, Robert I, Ricke, Darrell O, Doggett, Norman A, and Pras, Mordechai. Pyrin gene and mutants thereof, which cause familial Mediterranean fever. United States: N. p., 2003. Web.
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Kastner, Daniel L, Aksentijevichh, Ivona, Centola, Michael, Deng, Zuoming, Sood, Ramen, Collins, Francis S, Blake, Trevor, Liu, P Paul, Fischel-Ghodsian, Nathan, Gumucio, Deborah L, Richards, Robert I, Ricke, Darrell O, Doggett, Norman A, & Pras, Mordechai. Pyrin gene and mutants thereof, which cause familial Mediterranean fever. United States.
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Kastner, Daniel L, Aksentijevichh, Ivona, Centola, Michael, Deng, Zuoming, Sood, Ramen, Collins, Francis S, Blake, Trevor, Liu, P Paul, Fischel-Ghodsian, Nathan, Gumucio, Deborah L, Richards, Robert I, Ricke, Darrell O, Doggett, Norman A, and Pras, Mordechai. Tue . "Pyrin gene and mutants thereof, which cause familial Mediterranean fever". United States. https://www.osti.gov/servlets/purl/973152.
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@article{osti_973152,
title = {Pyrin gene and mutants thereof, which cause familial Mediterranean fever},
author = {Kastner, Daniel L and Aksentijevichh, Ivona and Centola, Michael and Deng, Zuoming and Sood, Ramen and Collins, Francis S and Blake, Trevor and Liu, P Paul and Fischel-Ghodsian, Nathan and Gumucio, Deborah L and Richards, Robert I and Ricke, Darrell O and Doggett, Norman A and Pras, Mordechai},
abstractNote = {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.},
doi = {},
journal = {},
number = ,
volume = ,
place = {United States},
year = {Tue Sep 30 00:00:00 EDT 2003},
month = {Tue Sep 30 00:00:00 EDT 2003}
}
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Works referenced in this record:

A Transcriptional Map of the FMF Region
journal, June 1998

Molecular Genetic Testing for Familial Mediterranean Fever
journal, September 2000

A candidate gene for familial Mediterranean fever
journal, September 1997

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