PAX3 gene structure, alternative splicing and evolution.

  title={PAX3 gene structure, alternative splicing and evolution.},
  author={Thomas D. Barber and Melisa Carey Barber and Timothy E Cloutier and Thomas B Friedman},
  volume={237 2},
PAX3 is a member of the paired box family of transcription factors that function during embryogenesis and cancer epigenesis. Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma in humans and the Splotch phenotype in mice. In this study, we describe the genomic structure of PAX3, including novel coding sequences and the complete 3' UTR. Alternative transcripts of PAX3 were identified in various tissues, including human… CONTINUE READING
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