Pyrin gene and mutants thereof, which cause familial Mediterranean fever

US6627745B1 · kind B1 · utility

Assignees

• The United States of America, as represented by the Department of Health and Human Services · US
• Cedars Sinai Medical Center · US
• The Regents of the University of California · US
• THE REGENTS OF THE UNIVERSITY OF MICHIGAN · US
• Women's and Children's Hospital · AU
• Heller Institute for Medical Research · IL

Inventors

• Daniel L. Kastner · Bethesda, US
• Ivona Aksentijevichh · Bethesda, US
• Michael Centola · Oklahoma City, US
• Zuoming Deng · Gaithersburg, US
• Ramen Sood · Rockville, US
• Francis S. Collins · Rockville, US
• Trevor Blake · Laytonsville, US
• P. Paul Liu · Ellicott City, US
• Nathan Fischel-Ghodsian · Los Angeles, US
• Deborah Gumucio · Ann Arbor, US
• Robert I. Richards · Adelaide, AU
• Darrell Ricke · San Diego, US
• Norman A. Doggett · Los Alamos, US
• Mordechai Pras · Rishon LeZion, IL

Key dates

• Filing date: Aug 7, 2000
• Grant date: Sep 30, 2003
• Expiry date: Aug 7, 2020

Classification

• Technology area (CPC A): Human Necessities
• CPC primary: A01K2217/05
• WIPO field: Biotechnology
• WIPO sector: Chemistry

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.