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TEL-JAK2

TEL-JAK2 is a gene fusion resulting from a chromosomal translocation between chromosomes 9 and 12 observed in human leukemia ^[1] ^[2]. The 5' moiety of TEL is fused to the 3' end of JAK2.

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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.

References

^ Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffe M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA (1997). "A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia". Science 278 (5341): 1309-12. PMID 9360930.
^ 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 (1997). "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". Blood 90 (7): 2535-40. PMID 9326218.