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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Chromosomes, Human, Pair 13
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Chromosomes, Human, Pair 2
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Cloning, Molecular
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DNA, Neoplasm
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DNA-Binding Proteins / genetics*
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Forkhead Box Protein O1
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Forkhead Transcription Factors
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Humans
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Molecular Sequence Data
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Neoplasm Proteins / genetics
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PAX3 Transcription Factor
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Paired Box Transcription Factors
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Polymerase Chain Reaction
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RNA, Messenger
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Rhabdomyosarcoma, Alveolar / genetics*
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Sequence Homology, Amino Acid
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Transcription Factors / genetics*
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Translocation, Genetic*
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Tumor Cells, Cultured
Substances
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DNA, Neoplasm
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DNA-Binding Proteins
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FOXO1 protein, human
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Forkhead Box Protein O1
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Forkhead Transcription Factors
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Neoplasm Proteins
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PAX3 Transcription Factor
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PAX3 protein, human
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Paired Box Transcription Factors
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RNA, Messenger
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Transcription Factors
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Pax3 protein, mouse
Associated data
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GENBANK/U02308
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GENBANK/U02309
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GENBANK/U02310