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Hamoudi, Rifat, Clark, Jeremy, Warren, William, Abdul-Rauf, Munah, Somers, Gino, Venter, Deon, Fagan, Kerry, Cooper, Colin 
ORCID: https://orcid.org/0000-0003-2013-8042 and Shipley, Janet
(1998)
The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP.
Human Molecular Genetics, 7 (4).
pp. 637-642.
ISSN 0964-6906
Abstract
A recently described atypical myeloproliferative disorder is invariably associated with reciprocal translocations involving 8p11-12. The most common rearrangement is a t(8;13)(p11;q11-12). Here we determine that this translocation results in the fusion of the fibroblast growth factor receptor t gene(FGFR1), a member of the receptor tyrosine kinase family at 8p11, to a novel gene at 13q11-12 designated RAMP. The predicted RAMP protein exhibits strong homology to the product of a recently cloned candidate gene for X-linked mental retardation, DXS6673E. We also provide the first report of a novel, putative metal-binding motif, present as five tandem repeats in both RAMP and DXS6673E. RT-PCR detected only one of the two possible fusion transcripts, encoding a product in which the N-terminal 641 amino acids of RAMP become joined to the tyrosine kinase domain of FGFR1. Receptor tyrosine kinases are not commonly involved in the formation of tumour-specific fusion proteins. However, the previous reports of involvement of receptor tyrosine kinases in fusion proteins in non-Hodgkin's lymphoma, chronic myelomonocytic leukaemia and papillary thyroid carcinoma described similar rearrangements. By analogy with these, we propose that the RAMP-FGFR1 fusion product will contribute to progression of this myeloproliferative disorder by constitutive activation of tyrosine kinase function.
| Item Type: | Article |
|---|---|
| Additional Information: | Funding Information: The authors thank Howard Slater at the Murdoch Institute, Royal Children’s Hospital, Parkville, Australia for providing the fixed metaphase material and Anthony Baldini at the Baylor College of Medicine, Houston, Texas for making available the chromosome 8-specific centromere probe, p4.4. Sandra Gill, Sandra Birdsall, Jane Renshaw, Rachel Hunter, Susan McGuire, Bina Desai, Samantha Dibley and Rachel Jackson are acknowledged for their excellent technical assistance. We are also grateful to the Sanger Centre, Cambridge, UK for supplying the PAC library and clones. This work included support from the Medical Research Council and Cancer Research Campaign. |
| Uncontrolled Keywords: | molecular biology,genetics,genetics(clinical) ,/dk/atira/pure/subjectarea/asjc/1300/1312 |
| Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
| UEA Research Groups: | Faculty of Medicine and Health Sciences > Research Groups > Cancer Studies Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 18 Jul 2022 16:30 |
| Last Modified: | 06 Jun 2024 15:19 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/86494 |
| DOI: | 10.1093/hmg/7.4.637 |
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