title: Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma.
abstract: Although the t(2;13)(q35;q14) translocation has been found in most cases of the pediatric cancer alveolar rhabdomyosarcoma, several cases have been reported with a variant t(1;13)(p36;q14) translocation. Our findings indicate that this t(1;13) rearranges PAX7 on chromosome 1 and fuses it to FKHR on chromosome 13. This fusion results in a chimeric transcript consisting of 5' PAX7 and 3' FKHR regions, which is similar to the 5' PAX3-3' FKHR transcript formed by the t(2;13). The 5' PAX3 and PAX7 regions encode related DNA binding domains, and therefore we postulate that these translocations create similar chimeric transcription factors that alter expression of a common group of target genes.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia 19104.
authors.forename: R J
authors.initials: RJ
authors.lastname: Davis
authors.forename: C M
authors.initials: CM
authors.lastname: D'Cruz
authors.forename: M A
authors.initials: MA
authors.lastname: Lovell
authors.forename: J A
authors.initials: JA
authors.lastname: Biegel
authors.forename: F G
authors.initials: FG
authors.lastname: Barr
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics*; D009363:Neoplasm Proteins / Q000737:chemistry / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D051763:PAX7 Transcription Factor; D011993:Recombinant Fusion Proteins / Q000737:chemistry / Q000235:genetics; D018232:Rhabdomyosarcoma, Alveolar / Q000737:chemistry / Q000235:genetics*; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C085126:FOXO1 protein, human; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D009124:Muscle Proteins; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D051763:PAX7 Transcription Factor; C497321:PAX7 protein, human; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors