Nature Genetics
5, 230 - 235 (1993)
doi:10.1038/ng1193-230
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcomaNaomi Galili1, Richard J. Davis2, William J. Fredericks1, Sunil Mukhopadhyay1, Frank J. Rauscher III1, Beverly S. Emanuel3, Giovanni Rovera1
& Frederic G. Barr2
1The Wistar Institute, 3601 Spruce St., Philadelphia, Pennsylvania 19104, USA
2Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
3Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA Correspondence should be addressed to F.G.B. 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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