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Nat Genet. 1993 Nov;5(3):230-5.

Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.

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  • 1Wistar Institute, Philadelphia, Pennsylvania 19104.

Erratum in

  • Nat Genet 1994 Feb;6(2):214.


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.

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