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Title: Genomic organization of human JAK2 and mutation analysis of its JH2-domain in leukemia
Authors: Cools, Jan
Peeters, P
Voet, Thierry
Aventin, A
Mecucci, Christina
Grandchamp, B
Marynen, Peter # ×
Issue Date: Oct-1999
Series Title: Cytogenetics and cell genetics. vol:85 issue:3-4 pages:260-6
Abstract: The Janus kinase family of proteins, with four mammalian members (JAK1, JAK2, JAK3 and TYK2), plays an essential role in the signal transduction pathway from non-catalytic cytokine receptors to the nucleus. We recently reported the involvement of ETV6-JAK2 fusion genes in the development of leukemia of both lymphoid and myeloid origin. Dominant missense mutations of hopscotch, a Drosophila JAK homologue, causing leukemia-like defects were described. One of these mutations affected a conserved residue of the kinase- like JH2 domain and the introduction of this mutation in murine Jak2 resulted in the constitutional activation of its kinase activity. In order to further analyze its role in leukemogenesis, we cloned human JAK2 and determined its genomic organization. Twenty-four exons spanning a region of approximately 150 kb were identified. A mutation analysis of the exons 13 to 19, encoding the kinase-like JH2 domain failed to detect activating mutations in leukemia samples, suggesting that this is a rare event in human leukemia.
URI: 
ISSN: 0301-0171
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Clinical Genetics Section (-)
Clinical Genetics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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