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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Green, Anthony R. Gilliland, D. Gary Scott, Linda M. Futreal, P. Andrew Beer, Philip A. Mcmullin, Mary Frances Scott, Mike A. Warren, Alan J. Tong, Wei Levine, Ross L. Erber, Wendy N. Harrison, Claire N. Lodish, Harvey F. Stratton, Michael R. |
| Description | Author Affiliation: Scott LM ( University of Cambridge, Cambridge, United Kingdom.) |
| Abstract | BACKGROUND: The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS: We searched for new mutations in members of the JAK and signal transducer and activator of transcription (STAT) gene families in patients with V617F-negative polycythemia vera or idiopathic erythrocytosis. The mutations were characterized biochemically and in a murine model of bone marrow transplantation. RESULTS: We identified four somatic gain-of-function mutations affecting JAK2 exon 12 in 10 V617F-negative patients. Those with a JAK2 exon 12 mutation presented with an isolated erythrocytosis and distinctive bone marrow morphology, and several also had reduced serum erythropoietin levels. Erythroid colonies could be grown from their blood samples in the absence of exogenous erythropoietin. All such erythroid colonies were heterozygous for the mutation, whereas colonies homozygous for the mutation occur in most patients with V617F-positive polycythemia vera. BaF3 cells expressing the murine erythropoietin receptor and also carrying exon 12 mutations could proliferate without added interleukin-3. They also exhibited increased phosphorylation of JAK2 and extracellular regulated kinase 1 and 2, as compared with cells transduced by wild-type JAK2 or V617F JAK2. Three of the exon 12 mutations included a substitution of leucine for lysine at position 539 of JAK2. This mutation resulted in a myeloproliferative phenotype, including erythrocytosis, in a murine model of retroviral bone marrow transplantation. CONCLUSIONS: JAK2 exon 12 mutations define a distinctive myeloproliferative syndrome that affects patients who currently receive a diagnosis of polycythemia vera or idiopathic erythrocytosis. |
| ISSN | 00284793 |
| e-ISSN | 15334406 |
| Journal | New England Journal of Medicine |
| Issue Number | 5 |
| Volume Number | 356 |
| Language | English |
| Publisher | Massachusetts Medical Society (United States) |
| Publisher Date | 2007-02-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Janus Kinase 2 Genetics Mutation Polycythemia Vera Polycythemia Animals Bone Marrow Transplantation Disease Models, Animal Exons Heterozygote Metabolism Mice Mice, Inbred BALB C Molecular Sequence Data Phosphorylation Phosphotransferases Signal Transduction Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Medicine |
| Content Type | Text |
| Resource Type | Article |
| Subject | Medicine |
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