Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
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.
Galili
N
N
Wistar Institute, Philadelphia, Pennsylvania 19104.
Davis
R J
RJ
Fredericks
W J
WJ
Mukhopadhyay
S
S
Rauscher
F J
FJ
Emanuel
B S
BS
Rovera
G
G
Barr
F G
FG
D000595:Amino Acid Sequence; D001483:Base Sequence; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins / Q000235:genetics*; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D006801:Humans; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D009363:Neoplasm Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D012333:RNA, Messenger; D014157:Transcription Factors; C068686:Pax3 protein, mouse