期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 142, 期 6, 页码 986-990出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1365-2141.2008.07180.x
关键词
idiopathic erythrocytosis; polycythemia vera; JAK2 tyrosine kinase; intramolecular auto-inhibition; structural prediction
类别
资金
- Associazione Vicentina per le Leucemie, i Linfomi e il Mieloma (AVILL-AIL), Vicenza
- 'Fondazione Progetto Ematologia', Vicenza
We report a novel gain-of-function JAK2 exon 12 insertion mutation in a patient with idiopathic erythrocytosis and low serum erythropoietin level. To date, only rare cases of such mutations have been reported in the JAK2 exon 12. Using computer-based structural modelling we propose that this mutation causes the loss of the JAK2 auto-inhibition step, leading to the constitutive activation of JAK2 tyrosine kinase-dependent activity. Our model-based hypothesis provides a useful approach for the investigation of the phenotype-genotype relationship in myeloproliferative disorders involving JAK2.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据