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