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

Record type: Article

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.

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Citation

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), pp. 78-83. (doi:10.1002/gcc.20023).

More information

Published date: 1 March 2004
Keywords: translocation, human, receptor, molecular sequence data, protein-tyrosine kinase, receptor protein-tyrosine kinases, drosophila proteins, genes, analysis, chromosomes, laboratories

Identifiers

Local EPrints ID: 59780
URI: http://eprints.soton.ac.uk/id/eprint/59780
ISSN: 1045-2257
PURE UUID: 80690dd7-4116-4890-aa4d-886745e265f8
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 17 Jul 2017 14:24

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