TEL-JAK2

TEL-JAK2

TEL-JAK2 is a gene fusion resulting from a chromosomal translocation between chromosomes 9 and 12 observed in human leukemia [cite journal | author=Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffe 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 | year=1997 | pages=1309–12 | volume=278 | issue=5341 | pmid=9360930 | doi=10.1126/science.278.5341.1309] [cite journal | author=Peeters P, Raynaud SD, Cools J, Wlodarska I, Grosgeorge J, Philip P, Monpoux F, Van Rompaey L, Baens M, Van den Berghe H, Marynen P | title=Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia | journal=Blood | year=1997 | pages=2535–40 | volume=90 | issue=7 | pmid=9326218] . The 5' moiety of "TEL" is fused to the 3' end of "JAK2".

The oligomerisation domain of the TEL protein (also called ETV6) becomes juxtaposed to the tyrosine kinase domain of JAK2, and as result the TEL-JAK2 displays constitutive kinase activity.

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