EP1895000 Identification of a JAK2 mutation involved in polycythaemia vera

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Application Number 07118874

Application Date 26.10.2005

Publication Number 1895000

Publication Date 05.03.2008

Publication Kind A1

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Applicants ASSIST PUBL HOPITAUX DE PARIS
INST NAT SANTE RECH MED
ROUSSY INST GUSTAVE
UNIV VERSAILLES SAINT QUENTIN EN YVELINES
UNIV PARIS SUD

Inventors VAINCHENKER WILLIAM
UGO VALERIE
JAMES CHLOE
LE COUEDIC JEAN-PIERRE
CASADEVALL NICOLE

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Priority Data 05815749 26.10.2005 EP
0411480 27.10.2004 FR

Title

(DE) Identifizierung einer Mutation von JAK2 im Zusammenhang mit Polyglobulie beim Osler-Vaquez-Syndrom

(EN) Identification of a JAK2 mutation involved in polycythaemia vera

(FR) Identification d'une mutation de JAK2 impliquée dans la polyglobulie de Vaquez

Abstract

(EN) An isolated JAK2 (Janus kinase 2) protein is a mutation of the amino acid 617, and especially mutation V617F, with its sequence present in SEQ ID No. 1, or a similar sequence in other mammals, is new. The nucleotide sequence coding for the variant JAK2 V617F is especially SEQ ID No 2 possessing the t/g mutation in position 1849 from the ATG marking the start of the transcription.

(FR) La présente invention concerne le variant V617F de la protéine tyrosine kinase JAK2, ledit variant étant responsable de la Polyglobulie de Vaquez. L'invention se rapporte également à une méthode de diagnostic en première intention de l'érythrocytose et de la thrombocytose permettant de les rattacher à des syndromes myéloprolifératifs ou à la détéction dans les syndromes myéloprolifératifs du variant JAK2 V617F permettant de les reclasser dans un nouveau groupe nosologique et à l'identification d'inhibiteurs spécifiques et de siRNA.

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N	MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9	Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10	Transferases (2.)
12	transferring phosphorus containing groups, e.g. kinases (2.7)

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12	BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

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33	Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48	Biological material, e.g. blood, urine; Haemocytometers
50	Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
53	Immunoassay; Biospecific binding assay; Materials therefor

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9	Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10	Transferases (2.)
12	transferring phosphorus containing groups, e.g. kinases (2.7)

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Q	MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1	Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68	involving nucleic acids

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1. EP1895000 - Identification of a JAK2 mutation involved in polycythaemia vera

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2500	Screening for compounds of potential therapeutic value
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