Department of Pharmacology, State University of New York (SUNY) Upstate Medical University, Syracuse, NY 13210, USA.
FEBS Lett. 2011 Apr 6;585(7):1007-13. doi: 10.1016/j.febslet.2011.02.032. Epub 2011 Mar 4.
The JAK2V617F mutation has been identified in most patients with myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia and primary myelofibrosis. Although JAK2V617F is the predominant allele associated with MPNs, other activating Janus kinase 2 (JAK2) alleles (such as K539L, T875N) also have been identified in distinct MPNs. The basis for the differences in the in vivo effects of different JAK2 alleles remains unclear. We have characterized three different classes of disease-associated JAK2 mutants (JAK2V617F, JAK2K539L and JAK2T875N) and found significant differences in biochemical, signaling and transforming properties among these different classes of JAK2 mutants.
JAK2V617F 突变已在大多数骨髓增殖性肿瘤（MPN）患者中被发现，包括真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化。虽然 JAK2V617F 是与 MPN 相关的主要等位基因，但在不同的 MPN 中也已经鉴定出其他激活的 Janus 激酶 2（JAK2）等位基因（如 K539L、T875N）。不同 JAK2 等位基因在体内的作用不同的基础尚不清楚。我们已经描述了三种不同类型的与疾病相关的 JAK2 突变体（JAK2V617F、JAK2K539L 和 JAK2T875N），并发现这些不同类型的 JAK2 突变体在生化、信号和转化特性方面存在显著差异。
