Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome
Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome
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.
translocation, human, receptor, molecular sequence data, protein-tyrosine kinase, receptor protein-tyrosine kinases, drosophila proteins, genes, analysis, chromosomes, laboratories
78-83
Grand, Effie K.
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Grand, Francis H.
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Chase, Andrew J.
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Ross, Fiona M.
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Corcoran, Martin M.
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Oscier, David G.
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Cross, Nicholas C.P.
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1 March 2004
Grand, Effie K.
609a8826-ac46-4d75-8f2b-a0ca9315c3fa
Grand, Francis H.
89bd846f-638a-4bda-b8a9-8a1989021b31
Chase, Andrew J.
a40a09c2-3073-4655-ba0b-a802e34914b5
Ross, Fiona M.
ec0958f8-b992-4e4a-b7e3-c474600390ba
Corcoran, Martin M.
b39079e9-760e-4f95-8f10-9e81ff9e8427
Oscier, David G.
c2620a1d-25bb-48f7-9651-f5d023636381
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
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), .
(doi:10.1002/gcc.20023).
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.
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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
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Date deposited: 04 Sep 2008
Last modified: 16 Mar 2024 03:23
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Author:
Effie K. Grand
Author:
Francis H. Grand
Author:
Fiona M. Ross
Author:
Martin M. Corcoran
Author:
David G. Oscier
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