Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.
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.
Barr
F G
FG
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania.
Galili
N
N
Holick
J
J
Biegel
J A
JA
Rovera
G
G
Emanuel
B S
BS
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
D004273:DNA, Neoplasm