Janus kinase 2

Jak2 has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family (IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R). JAK2 signaling is activated downstream from the prolactin receptor.cite journal |author=Bole-Feysot C, Goffin V, Edery M, Binart N, Kelly PA |title=Prolactin (PRL) and its receptor: actions, signal transduction pathways and phenotypes observed in PRL receptor knockout mice |journal=Endocr. Rev. |volume=19 |issue=3 |pages=225–68 |year=1998 |pmid=9626554 |doi=] JAK2 gene fusions with the TEL(ETV6) (TEL-JAK2) and PCM1 genes have been found in leukemia patients.cite journal |author=Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffé M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA |title=A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia |journal=Science |volume=278 |issue=5341 |pages=1309–12 |year=1997 |pmid=9360930 |doi=] cite journal |author=Reiter A, Walz C, Watmore A, Schoch C, Blau I, Schlegelberger B, Berger U, Telford N, Aruliah S, Yin JA, Vanstraelen D, Barker HF, Taylor PC, O'Driscoll A, Benedetti F, Rudolph C, Kolb HJ, Hochhaus A, Hehlmann R, Chase A, Cross NC |title=The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2 |journal=Cancer Res. |volume=65 |issue=7 |pages=2662–7 |year=2005 |pmid=15805263 |doi=10.1158/0008-5472.CAN-04-4263] Further, mutations in JAK2 have been implicated in polycythemia vera, essential thrombocythemia, and other myeloproliferative disorders.cite journal |author=Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC |title=A gain-of-function mutation of JAK2 in myeloproliferative disorders |journal=N. Engl. J. Med. |volume=352 |issue=17 |pages=1779–90 |year=2005 |pmid=15858187 |doi=10.1056/NEJMoa051113] This mutation, a change of valine to phenylalanine at the 617 position, appears to render hematopoietic cells more sensitive to growth factors such as erythropoietin and thrombopoietin. Loss of Jak2 is lethal by embryonic day 12 in mice.cite journal |author=Neubauer H, Cumano A, Müller M, Wu H, Huffstadt U, Pfeffer K |title=Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis |journal=Cell |volume=93 |issue=3 |pages=397–409 |year=1998 |pmid=9590174 |doi=]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Berger R |title= [A recurrent mutation of the JAK2 gene in chronic myeloproliferative disorders] |journal=Pathol. Biol. |volume=54 |issue= 4 |pages= 182–4 |year= 2006 |pmid= 16084028 |doi= 10.1016/j.patbio.2005.07.002
*cite journal | author=Pargade V, Darnige L, Gaussem P |title= [Acquired mutation of JAK2 tyrosine kinase and polycythaemia vera] |journal=Ann. Biol. Clin. (Paris) |volume=64 |issue= 1 |pages= 3–9 |year= 2006 |pmid= 16420986 |doi=
*cite journal | author=Staerk J, Kallin A, Royer Y, "et al." |title=JAK2, the JAK2 V617F mutant and cytokine receptors. |journal=Pathol. Biol. |volume=55 |issue= 2 |pages= 88–91 |year= 2007 |pmid= 16904848 |doi= 10.1016/j.patbio.2006.06.003
*cite journal | author=Hsu HC |title=Pathogenetic role of JAK2 V617F mutation in chronic myeloproliferative disorders. |journal=Journal of the Chinese Medical Association : JCMA |volume=70 |issue= 3 |pages= 89–93 |year= 2007 |pmid= 17389152 |doi=

External links

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