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

Nat Genet. 1993 Nov;5(3):230-5. doi: 10.1038/ng1193-230.


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


  • 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