The influence of novel transcriptional regulatory element in intron 14 on the expression of Janus kinase 2 gene in myeloproliferative neoplasms

Journal of Applied Genetics

Volumn 54, Issue 1, 2013, Pages 21-26

  Spasovski, Vesna ^a   Tosic, Natasa ^a   Nikcevic, Gordana ^a   Stojiljkovic, Maja ^a   Zukic, Branka ^a   Radmilovic, Milena ^a   Karan Djurasevic, Teodora ^a   Srzentic, Sanja ^a   Colovic, Milica ^a   Pavlovic, Sonja ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

Author keywords

46 1 haplotype; JAK2 gene expression; JAK2 intron 14; Myeloproliferative neoplasms; Transcriptional regulation

Indexed keywords

JANUS KINASE 2;

ADULT; AGED; ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENOTYPING TECHNIQUE; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; JANUS KINASE 2 GENE; MAJOR CLINICAL STUDY; MALE; MYELOPROLIFERATIVE NEOPLASM; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION;

EID: 84872673955     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-012-0125-x     Document Type: Article

References (22)

1. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR; Cancer Genome Project (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365(9464): 1054-1061.
2. Beer PA, Campbell PJ, Scott LM, Bench AJ, Erber WN, Bareford D, Wilkins BS, Reilly JT, Hasselbalch HC, Bowman R, Wheatley K, Buck G, Harrison CN, Green AR (2008) MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood 112(1): 141-149.
3. Boshart M, Klüppel M, Schmidt A, Schütz G, Luckow B (1992) Reporter constructs with low background activity utilizing the cat gene. Gene 110(1): 129-130.
4. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, Duffy A, Boyd EM, Bench AJ, Scott MA, Vassiliou GS, Milligan DW, Smith SR, Erber WN, Bareford D, Wilkins BS, Reilly JT, Harrison CN, Green AR; United Kingdom Myeloproliferative Disorders Study Group; Medical Research Council Adult Leukaemia Working Party; Australasian Leukaemia and Lymphoma Group (2005) Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 366(9501): 1945-1953.
5. Grand FH, Hidalgo-Curtis CE, Ernst T, Zoi K, Zoi C, McGuire C, Kreil S, Jones AV, Score J, Metzgeroth G, Oscier D, Hall A, Brandts C, Serve H, Reiter A, Chase AJ, Cross NC (2009) Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 113(24): 6182-6192.
6. James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, Garçon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434(7037): 1144-1148.
7. Jones AV, Chase A, Silver RT, Oscier D, Zoi K, Wang YL, Cario H, Pahl HL, Collins A, Reiter A, Grand F, Cross NC (2009) JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 41(4): 446-449.
8. Kilpivaara O, Mukherjee S, Schram AM, Wadleigh M, Mullally A, Ebert BL, Bass A, Marubayashi S, Heguy A, Garcia-Manero G, Kantarjian H, Offit K, Stone RM, Gilliland DG, Klein RJ, Levine RL (2009) A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat Genet 41(4): 455-459.
9. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352(17): 1779-1790.
10. Lacy J, Rudnick H (1992) Transcriptional regulation of the human IgE receptor (Fc epsilon RII/CD23) by EBV. Identification of EBV-responsive regulatory elements in intron 1. J Immunol 148(5): 1554-1560.
11. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Fröhling S, Döhner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7(4): 387-397.
12. Lippert E, Boissinot M, Kralovics R, Girodon F, Dobo I, Praloran V, Boiret-Dupré N, Skoda RC, Hermouet S (2006) The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 108(6): 1865-1867. doi: 10. 1182/blood-2006-01-013540.
13. Ma W, Kantarjian H, Zhang X, Yeh CH, Zhang ZJ, Verstovsek S, O'Brien S, Giles F, Albitar M (2010) Plasma levels of JAK2 mRNA in patients with chronic myeloproliferative diseases with and without V617F mutation: implications for prognosis and disease biology. Int J Lab Hematol 32(1 Pt 2): 95-102.
14. Olcaydu D, Harutyunyan A, Jäger R, Berg T, Gisslinger B, Pabinger I, Gisslinger H, Kralovics R (2009) A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet 41(4): 450-454.
15. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M, Steensma DP, Elliott MA, Wolanskyj AP, Hogan WJ, McClure RF, Litzow MR, Gilliland DG, Tefferi A (2006) MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 108(10): 3472-3476.
16. Plo I, Vainchenker W (2009) Molecular and genetic bases of myeloproliferative disorders: questions and perspectives. Clin Lymphoma Myeloma 9(Suppl 3): S329-S339.
17. Schram AM, Xing X, Kilpivaara O, Mukherjee S, Viny AD, Guryanova O, Klein RJ, Levine RL (2011) Genetic and functional investigation of germline JAK2 alleles that predispose to myeloproliferative neoplasms. In: Proceedings of the 53rd ASH Annual Meeting and Exposition, San Diego, California, December 2011, abstract 124.
18. Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, Futreal PA, Erber WN, McMullin MF, Harrison CN, Warren AJ, Gilliland DG, Lodish HF, Green AR (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356(5): 459-468.
19. Stojiljkovic M, Zukic B, Tosic N, Karan-Djurasevic T, Spasovski V, Nikcevic G, Pavlovic S (2010) Novel transcriptional regulatory element in the phenylalanine hydroxylase gene intron 8. Mol Genet Metab 101(1): 81-83.
20. Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, Li CY, Hanson CA, Mesa R, Bernard O, Delhommeau F, Vainchenker W, Gilliland DG, Levine RL (2009) TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 23(5): 905-911.
21. Yang Y, Hwang CK, D'Souza UM, Lee SH, Junn E, Mouradian MM (2000) Three-amino acid extension loop homeodomain proteins Meis2 and TGIF differentially regulate transcription. J Biol Chem 275(27): 20734-20741.
22. Zukic B, Radmilovic M, Stojiljkovic M, Tosic N, Pourfarzad F, Dokmanovic L, Janic D, Colovic N, Philipsen S, Patrinos GP, Pavlovic S (2010) Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription. Pharmacogenomics 11(4): 547-557.