Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.
作者： Frederic G. Barr , Naomi Galili , John Holick , Jaclyn A. Biegel , Giovanni Rovera
DOI: 10.1038/NG0293-113
关键词:
摘要: We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome) is the chromosome 2 locus rearranged by t(2;13)(q35;q14) translocation of paediatric solid tumour alveolar rhabdomyosarcoma. The rearrangement breakpoints occur within an intron downstream paired box and homeodomain-encoding regions. Upstream sequences hybridize a novel transcript t(2;13)-containing lines. Cloning characterization this indicate juxtaposes DNA binding elements with 13 sequences, suggesting formation hybrid transcription factor. Therefore, gene alterations are associated two completely unrelated human diseases.
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