Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome


Grand, Effie K., Grand, Francis H., Chase, Andrew J., Ross, Fiona M., Corcoran, Martin M., Oscier, David G. and Cross, Nicholas C.P. (2004) Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. Genes, Chromosomes and Cancer, 40, (1), 78-83. (doi:10.1002/gcc.20023).

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Original Publication URL: http://dx.doi.org/10.1002/gcc.20023

Description/Abstract

The 8p11 myeloproliferative syndrome (EMS) is an aggressive hematological malignancy caused by the fusion of diverse partner genes to fibroblast growth factor receptor 1 (FGFR1). The partner proteins promote dimerization and ligand-independent activation of FGFR1-encoded tyrosine kinase, deregulating hemopoiesis in a manner analogous to BCR-ABL in chronic myeloid leukemia. Here, we describe the identification of a new FGFR1 fusion gene in a patient who presented with T-cell lymphoblastic lymphoma in conjunction with an acquired ins(12;8)(p11;p11p22). Initial FISH analysis and Southern blotting confirmed that FGFR1 was disrupted. Using 5'-RACE PCR, we identified part of a novel gene, FGFR1OP2, at chromosome band 12p11 that was fused to exon 9 of FGFR1.FGFR1OP2 is predicted to be translated into an evolutionarily conserved protein containing coiled-coil domains but no other recognizable motifs. The presence of the chimeric gene was confirmed by RT-PCR, genomic DNA PCR, and FISH. These data further support the central role of deregulated FGFR1 in the pathogenesis of EMS.

Item Type: Article
ISSNs: 1045-2257 (print)
Related URLs:
Keywords: translocation,human, receptor, molecular sequence data, protein-tyrosine kinase, receptor protein-tyrosine kinases, drosophila proteins, genes, analysis, chromosomes, laboratories
Subjects: R Medicine > RB Pathology
R Medicine
Q Science > QP Physiology
Divisions: University Structure - Pre August 2011 > School of Medicine > Cancer Sciences
University Structure - Pre August 2011 > School of Medicine
University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 59780
Date Deposited: 04 Sep 2008
Last Modified: 27 Mar 2014 18:41
URI: http://eprints.soton.ac.uk/id/eprint/59780

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