البحث في مجموعات البراءات الوطنية والدولية

1. (WO1999009169) THE PYRIN GENE AND MUTANTS THEREOF, WHICH CAUSE FAMILIAL MEDITERRANEAN FEVER

Pub. No.:    WO/1999/009169    International Application No.:    PCT/US1998/017255
Publication Date: Fri Feb 26 00:59:59 CET 1999 International Filing Date: Fri Aug 21 01:59:59 CEST 1998
IPC: C07K 14/47
Applicants: THE GOVERNMENT OF THE UNITED STATES OF AMERICA as represented by THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES
KASTNER, Daniel, L.
AKSENTIJEVICH, Ivona
CENTOLA, Michael
DENG, Zuoming
SOOD, Raman
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
CEDARS-SINAI MEDICAL CENTER
UNIVERSITY OF MICHIGAN
ADELAIDE WOMEN'S AND CHILDREN'S HOSPITAL
THE REGENTS OF THE UNIVERSITY OF CALIFORNIA
HELLER INSTITUTE OF MEDICAL RESEARCH
Inventors: KASTNER, Daniel, L.
AKSENTIJEVICH, Ivona
CENTOLA, Michael
DENG, Zuoming
SOOD, Raman
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
Title: THE 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 M680I, M694V, K695R, and V726A. Additionally, the invention includes methods for diagnosing a patient at risk for having FMF and kits therefor.