Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

Nat Genet. 1993 Feb;3(2):113-7. doi: 10.1038/ng0293-113.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Child
  • Chimera
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 2
  • Cloning, Molecular
  • DNA, Neoplasm / genetics
  • Gene Rearrangement*
  • Genes, Homeobox*
  • Humans
  • Molecular Sequence Data
  • Rhabdomyosarcoma / genetics*
  • Transcription, Genetic
  • Translocation, Genetic
  • Tumor Cells, Cultured


  • DNA, Neoplasm