Genomic organization of human JAK2 and mutation analysis of its JH2-domain in leukemia

Cytogenetics and Cell Genetics

Volumn 85, Issue 3-4, 1999, Pages 260-266

  Cools, J ^a   Peeters, P ^a   Voet, T ^a   Aventin, A ^b   Mecucci, C ^c   Grandchamp, B ^d   Marynen, P ^a,e  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c UNIVERSITY OF PERUGIA   (Italy)

^d INSERM   (France)

^e UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; JANUS KINASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; ENZYME ACTIVATION; EXON; FUSION GENE; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN CELL; LEUKEMIA; MISSENSE MUTATION; MOLECULAR CLONING; NORTHERN BLOTTING; PRIORITY JOURNAL; PROTEIN FAMILY; SIGNAL TRANSDUCTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

JANUS; MAMMALIA; MURINAE;

EID: 0032810186     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000015308     Document Type: Article

References (26)

1. Binari R, Perrimon N: Stripe-specific regulation of pair-rule genes by hopscotch, a putative Jak family tyrosine kinase in Drosophila. Genes Dev 8:300-312 (1994).
2. Chang MS, Chang GD, Leu JH, Huang FL, Chou CK, Huang CJ, Lo TB: Expression, characterization, and genomic structure of carp JAK1 kinase gene. DNA Cell Biol 15:827-844 (1996).
3. Cross SH, Charlton JA, Nan X, Bird AP: Purification of CpG islands using a methylated DNA binding column. Nature Genet 6:236-244 (1994).
4. Dalal I, Arpaia E, Dadi H, Kulkarni S, Squire J, Roifman CM: Cloning and characterization of the human homolog of mouse Jak2. Blood 91:844-851 (1998).
5. Firmbach KI, Byers M, Shows T, Dalla FR, Krolewski JJ: tyk2, prototype of a novel class of non-receptor tyrosine kinase genes. Oncogene 5:1329-1336 (1990).
6. Fujitani Y, Hibi M, Fukada T, Takahashi TM, Yoshida H, Yamaguchi T, Sugiyama K, Yamanaka Y, Nakajima K, Hirano T: An alternative pathway for STAT activation that is mediated by the direct interaction between JAK and STAT. Oncogene 14:751-761 (1997).
7. Gual P, Baron V, Lequoy V, Van Obberghen E: Interaction of Janus kinases JAK-1 and JAK-2 with the insulin receptor and the insulin-like growth factor-1 receptor. Endocrinology 139:884-893 (1998).
8. Gurniak CB, Thomis DC, Berg LJ: Genomic structure and promoter region of the marine Janus-family tyrosine kinase, Jak3. DNA Cell Biol 16:85-94 (1997).
9. Hanks SK, Quinn AM, Hunter T: The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 241:42-52 (1988).
10. Harpur AG, Andres AC, Ziemiecki A, Aston RR, Wilks AF: JAK2, a third member of the JAK family of protein tyrosine kinases. Oncogene 7:1347-1353 (1992).
11. Harrison DA, Binari R, Nahreini TS, Gilman M, Perrimon N: Activation of a Drosophila Janus kinase (JAK) causes hematopoietic neoplasia and developmental defects. EMBO J 14:2857-2865 (1995).
12. Hayashi K, Yandell DW: How sensitive is PCR-SSCP? Hum Mutat 2:338-346 (1993).
13. Ihle JN: STATs and MAPKs: obligate or opportunistic partners in signaling. Bioessays 18:95-98 (1996).
14. Kumar A, Toscani A, Rane S, Reddy EP: Structural organization and chromosomal mapping of JAK3 locus. Oncogene 13:2009-2014 (1996).
15. Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffe M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA: A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science 278:1309-1312 (1998).
16. Luo H, Hanratty WP, Dearolf CR: An amino acid substitution in the Drosophila hopTum-1 Jak kinase causes leukemia-like hematopoietic defects. EMBO J 14:1412-1420 (1995).
17. Luo H, Rose P, Barber D, Hanratty WP, Lee S, Roberts TM, D'Andrea AD, Dearolf CR: Mutation in the Jak kinase JH2 domain hyperactivates Drosophila and mammalian Jak-Stat pathways. Mol Cell Biol 17:1562-1571 (1997).
18. Metcalf D: The hemopoietic regulators-an embarrassment of riches. Bioessays 14:799-805 (1992).
19. Meydan N, Grunberger T, Dadi H, Shahar M, Arpaia E, Lapidot Z, Leeder JS, Freedman M, Cohen A, Gazit A, Levitzki A, Roifman CM: Inhibition of acute lymphoblastic leukaemia by a Jak-2 inhibitor. Nature 379:645-648 (1996).
20. Peeters P, Raynaud SD, Cools J, Wlodarska I, Grosgeorge J, Philip P, Monpoux F, Van RL, Baens M, Van-den BH, Marynen P: 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 90:2535-2540 (1997).
21. Rane SG, Reddy EP: JAK3: a novel JAK kinase associated with terminal differentiation of hematopoietic cells. Oncogene 9:2415-2423 (1994).
22. Saltzman A, Stone M, Franks C, Searfoss G, Munro R, Jaye M, Ivashchenko Y: Cloning and characterization of human Jak-2 kinase: high mRNA expression in immune cells and muscle tissue. Biochem biophys Res Commun 246:627-633 (1998).
23. Schwaller J, Frantsve J, Aster J, Williams IR, Tomasson MH, Ross TS, Peeters P, VanRompaey L, VanEtten RA, Ilaria R, Marynen P, Gilliland DG: Transformation of hematopoietic cell lines to growth-factor independence and induction of a fatal myelo-and lymphoproliferative disease in mice by retrovirally transduced TEL/JAK2 fusion genes. EMBO J 17:5321-5333 (1998).
24. Velazquez L, Mogensen KE, Barbieri G, Fellous M, Uze G, Pellegrini S: Distinct domains of the protein tyrosine kinase tyk2 required for binding of interferon-alpha/beta and for signal transduction. J biol Chem 270:3327-3334 (1995).
25. Wilks AF, Harpur AG, Kurban RR, Ralph SJ, Zurcher G, Ziemiecki A: Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase. Mol cell Biol 11:2057-2065 (1991).
26. Wilks AF, Oates AC: The JAK/STAT pathway. Cancer Surv 27:139-163 (1996).