title: Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.
abstract: We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome) is the chromosome 2 locus rearranged by the t(2;13)(q35;q14) translocation of the paediatric solid tumour alveolar rhabdomyosarcoma. The rearrangement breakpoints occur within an intron downstream of the paired box and homeodomain-encoding regions. Upstream PAX3 sequences hybridize to a novel transcript in t(2;13)-containing lines. Cloning and characterization of this novel transcript indicate that the translocation juxtaposes the PAX3 DNA binding elements with chromosome 13 sequences, suggesting formation of a hybrid transcription factor. Therefore, PAX3 gene alterations are associated with two completely unrelated human diseases.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania.
authors.forename: F G
authors.initials: FG
authors.lastname: Barr
authors.forename: N
authors.initials: N
authors.lastname: Galili
authors.forename: J
authors.initials: J
authors.lastname: Holick
authors.forename: J A
authors.initials: JA
authors.lastname: Biegel
authors.forename: G
authors.initials: G
authors.lastname: Rovera
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D001483:Base Sequence; D002648:Child; D002678:Chimera; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D004273:DNA, Neoplasm / Q000235:genetics; D015321:Gene Rearrangement; D005801:Genes, Homeobox; D006801:Humans; D008969:Molecular Sequence Data; D012208:Rhabdomyosarcoma / Q000235:genetics*; D014158:Transcription, Genetic; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D004273:DNA, Neoplasm