Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
- 1 November 1993
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 5 (3) , 230-235
- https://doi.org/10.1038/ng1193-230
Abstract
We have examined the structure and expression of the products associated with the t(2;13)(q35;q14) translocation associated with alveolar rhabdomyosarcoma. The chromosome 13 gene (FKHR) is identified as a member of the fork head domain family of transcription factors characterized by a conserved DNA binding motif. Polymerase chain reaction analysis demonstrates that a 5'PAX3-3' FKHR chimaeric transcript is expressed in all eight alveolar rhabdomyosarcomas investigated. Immunoprecipitation experiments detect the predicted fusion protein. These findings indicate that the t(2;13) generates a potentially tumorigenic fusion transcription factor consisting of intact PAX3 DNA binding domains, a truncated fork head DNA binding domain and C-terminal FKHR regions.Keywords
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