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1. (WO1999009169) THE PYRIN GENE AND MUTANTS THEREOF, WHICH CAUSE FAMILIAL MEDITERRANEAN FEVER
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/1999/009169    International Application No.:    PCT/US1998/017255
Publication Date: 25.02.1999 International Filing Date: 20.08.1998
Chapter 2 Demand Filed:    22.03.1999    
IPC:
C07K 14/47 (2006.01)
Applicants: THE GOVERNMENT OF THE UNITED STATES OF AMERICA as represented by THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES [US/US]; Suite 325 6011 Executive Boulevard Rockville, MD 20852 (US) (AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BY, CA, CF, CG, CH, CI, CM, CN, CU, CY, CZ, DE, DK, EE, ES, FI, FR, GA, GB, GE, GH, GM, GN, GR, GW, HR, HU, ID, IE, IL, IS, IT, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MC, MD, MG, MK, ML, MN, MR, MW, MX, NE, NL, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, SN, SZ, TD, TG, TJ, TM, TR, TT, UA, UG, UZ, VN, YU, ZW only).
KASTNER, Daniel, L. [US/US]; (US) (For US Only).
AKSENTIJEVICH, Ivona [US/US]; (US) (For US Only).
CENTOLA, Michael [US/US]; (US) (For US Only).
DENG, Zuoming [CN/US]; (US) (For US Only).
SOOD, Raman [CA/US]; (US) (For US Only).
COLLINS, Francis, S. [US/US]; (US) (For US Only).
BLAKE, Trevor [US/US]; (US) (For US Only).
LIU, P., Paul [US/US]; (US) (For US Only).
FISCHEL-GHODSIAN, Nathan [US/US]; (US) (For US Only).
GUMUCIO, Deborah, L. [US/US]; (US) (For US Only).
RICHARDS, Robert, I. [AU/AU]; (AU) (For US Only).
RICKE, Darrell, O. [US/US]; (US) (For US Only).
DOGGETT, Norman, A. [US/US]; (US) (For US Only).
PRAS, Mordechai [IL/IL]; (IL) (For US Only).
CEDARS-SINAI MEDICAL CENTER [US/US]; 8700 Beverly Boulevard Los Angeles, CA 90048-0750 (US) (AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BY, CA, CF, CG, CH, CI, CM, CN, CU, CY, CZ, DE, DK, EE, ES, FI, FR, GA, GB, GE, GH, GM, GN, GR, GW, HR, HU, ID, IE, IL, IS, IT, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MC, MD, MG, MK, ML, MN, MR, MW, MX, NE, NL, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, SN, SZ, TD, TG, TJ, TM, TR, TT, UA, UG, UZ, VN, YU, ZW only).
UNIVERSITY OF MICHIGAN [US/US]; Wolverine Tower Room 2071 3003 South State Street Ann Arbor, MI 48109-1280 (US) (AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BY, CA, CF, CG, CH, CI, CM, CN, CU, CY, CZ, DE, DK, EE, ES, FI, FR, GA, GB, GE, GH, GM, GN, GR, GW, HR, HU, ID, IE, IL, IS, IT, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MC, MD, MG, MK, ML, MN, MR, MW, MX, NE, NL, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, SN, SZ, TD, TG, TJ, TM, TR, TT, UA, UG, UZ, VN, YU, ZW only).
ADELAIDE WOMEN'S AND CHILDREN'S HOSPITAL [AU/AU]; 72 King William Road North Adelaide, South Australia 5006 (AU) (AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BY, CA, CF, CG, CH, CI, CM, CN, CU, CY, CZ, DE, DK, EE, ES, FI, FR, GA, GB, GE, GH, GM, GN, GR, GW, HR, HU, ID, IE, IL, IS, IT, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MC, MD, MG, MK, ML, MN, MR, MW, MX, NE, NL, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, SN, SZ, TD, TG, TJ, TM, TR, TT, UA, UG, UZ, VN, YU, ZW only).
THE REGENTS OF THE UNIVERSITY OF CALIFORNIA [US/US]; Los Alamos National Laboratory LC/BPL, MS D412 Los Alamos, NM 87545 (US) (AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BY, CA, CF, CG, CH, CI, CM, CN, CU, CY, CZ, DE, DK, EE, ES, FI, FR, GA, GB, GE, GH, GM, GN, GR, GW, HR, HU, ID, IE, IL, IS, IT, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MC, MD, MG, MK, ML, MN, MR, MW, MX, NE, NL, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, SN, SZ, TD, TG, TJ, TM, TR, TT, UA, UG, UZ, VN, YU, ZW only).
HELLER INSTITUTE OF MEDICAL RESEARCH [IL/IL]; Chaim Sheba Medical Center Tel-Hashomer Israel 52621 (IL) (AL, AM, AT, AU, AZ, BA, BB, BE, BF, BG, BJ, BR, BY, CA, CF, CG, CH, CI, CM, CN, CU, CY, CZ, DE, DK, EE, ES, FI, FR, GA, GB, GE, GH, GM, GN, GR, GW, HR, HU, ID, IE, IL, IS, IT, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MC, MD, MG, MK, ML, MN, MR, MW, MX, NE, NL, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, SN, SZ, TD, TG, TJ, TM, TR, TT, UA, UG, UZ, VN, YU, ZW only)
Inventors: KASTNER, Daniel, L.; (US).
AKSENTIJEVICH, Ivona; (US).
CENTOLA, Michael; (US).
DENG, Zuoming; (US).
SOOD, Raman; (US).
COLLINS, Francis, S.; (US).
BLAKE, Trevor; (US).
LIU, P., Paul; (US).
FISCHEL-GHODSIAN, Nathan; (US).
GUMUCIO, Deborah, L.; (US).
RICHARDS, Robert, I.; (AU).
RICKE, Darrell, O.; (US).
DOGGETT, Norman, A.; (US).
PRAS, Mordechai; (IL)
Agent: SPRATT, Gwendolyn, D.; Needle & Rosenberg, P.C. Suite 1200 The Candler Building 127 Peachtree Street, N.E. Atlanta, GA 30303-1811 (US).
Gabriele Leibler-Gerstl Eisenführ Speiser & Partner; Arnulfstrabe 25 D 80335 München (DE)
Priority Data:
60/056,217 21.08.1997 US
Title (EN) THE PYRIN GENE AND MUTANTS THEREOF, WHICH CAUSE FAMILIAL MEDITERRANEAN FEVER
(FR) GENE DE LA PYRINE ET SES MUTANTS PROVOQUANT LA FIEVRE FAMILIALE PERIODIQUE
Abstract: front page image
(EN)The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as $i(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.
(FR)L'invention concerne la séquence nucléotidique codant la protéine associée à la fièvre familiale périodique (FFP). La séquence d'ADNc est appelée $i(MEFV). L'invention concerne également les fragments de la séquence d'ADN, ainsi que la séquence correspondante du transcrit d'ARN et ses fragments. Un autre aspect de l'invention concerne la séquence d'acides aminés d'une protéine (pyrine) associée à la FFP. L'invention a trait à la fois à la séquence d'acides aminés de longueur totale, aux protéines de fusion contenant la séquence d'acides aminés et à leurs fragments. L'invention a également trait à des mutants de séquences nucléotidiques et d'acides aminés associés à la FFP. L'invention concerne notamment trois mutations missense, groupées dans environ 40 à 50 acides aminés, dans le domaine rfp (B30.2) hautement conservé à la terminaison C de la protéine. Ces mutants comprennent M680I, M694V, K695R et V726A. De plus, l'invention a trait à des méthodes de diagnostic d'un patient présentant un risque de développer une FFP et aux kits afférents.
Designated States: AL, AM, AT, AU, AZ, BA, BB, BG, BR, BY, CA, CH, CN, CU, CZ, DE, DK, EE, ES, FI, GB, GE, GH, GM, HR, HU, ID, IL, IS, JP, KE, KG, KP, KR, KZ, LC, LK, LR, LS, LT, LU, LV, MD, MG, MK, MN, MW, MX, NO, NZ, PL, PT, RO, RU, SD, SE, SG, SI, SK, SL, TJ, TM, TR, TT, UA, UG, US, UZ, VN, YU, ZW.
African Regional Intellectual Property Organization (GH, GM, KE, LS, MW, SD, SZ, UG, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM)
European Patent Office (AT, BE, CH, CY, DE, DK, ES, FI, FR, GB, GR, IE, IT, LU, MC, NL, PT, SE)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GW, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: English (EN)