title: Translin recognition site sequences flank chromosome translocation breakpoints in alveolar rhabdomyosarcoma cell lines.
abstract: Alveolar rhabdomyosarcoma is characterized by a t(2;13)(q35;q14) chromosome translocation, which leads to the fusion of the PAX3 and the FKHR genes. The resulting fusion gene encodes a chimeric protein which has aberrant transcriptional activity. We report the molecular definition of the genomic breakpoints on both derivative chromosomes in one case and the derivative chromosome 13 breakpoints in two other cases. The DNA sequences adjacent to the breakpoints on the derivative chromosome 13 are remarkable for their resemblance to recognition sequences for the protein translin. Gel shift analyses confirm that these sequences bind translin. These findings suggest that translin may not only be important in the genesis of chromosomal translocations in lymphoid malignancy, but also in translocations found in solid tumours.
authors.affiliation: University of Oxford, Department of Paediatrics, John Radcliffe Hospital, UK.
authors.forename: J G
authors.initials: JG
authors.lastname: Chalk
authors.forename: F G
authors.initials: FG
authors.lastname: Barr
authors.forename: C D
authors.initials: CD
authors.lastname: Mitchell
mesh_terms: D001483:Base Sequence; D001665:Binding Sites; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D016601:RNA-Binding Proteins; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D004268:DNA-Binding Proteins; C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D016601:RNA-Binding Proteins; C095563:TSN protein, human; D014157:Transcription Factors; C498303:Tsn protein, mouse; C068686:Pax3 protein, mouse