PAX3 gene structure, alternative splicing and evolution

PAX3 is a member of the paired box family of transcription factors that fun ction during embryogenesis and cancer epigenesis. Mutations in PAX3 cause W aardenburg syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome an d alveolar rhabdomyosarcoma in humans and the Splotch phenotype in mice. In this study, we describe the genomic structure of PAX3, including novel cod ing sequences and the complete 3' UTR. Alternative transcripts of PAX3 were identified in various tissues, including human adult skeletal muscle and m ouse embryos. One of the novel alternative transcripts is evolutionarily co nserved in quail and can transactivate a reporter construct containing the mouse c-met promoter. The sequences and alternative transcripts reported he rein extend our understanding of the function and evolution of PAX3 in vert ebrates and enable a comprehensive mutation screen for individuals with Waa rdenburg syndrome. (C) 1999 Elsevier Science B.V. All rights reserved.