Question

Once you know where Pax3 is expressed, how would you go about elucidating the general function of Pax3 during development? Suggest an experimental manipulation that would allow you to do this?

Answer 1

The PAX3 gene encodes amember of the PAX family of transcription factorsthat is characterized by a highly conserved paired box motif.The PAX3 protein I a transcription factor consisting of an N-terminal DNA binding domain and a C-terminal transcriptional activation domain.This protein is expressed during development of skeletal muscle,central nervous system and neural crest derivations,and regulates expression of target genes that impact on proliferation,survival,differentiation and motility in these lineages.Germline mutations of the murine Pax3 and human PAX3 genescause deficiencies in these developmental lineages and result in the splotch phenotype and Waardenburg syndrome,respectively.Somatic genetic rearrangements that juxtapose the PAX3 DNA binding domain to the transcriptional activation domain of other transcription factors deregulate PAX3 function and contribute to the pathogenesis of the soft tissue cancers alveolar rhabodmyosarcoma and biphenotypic sinonasal sarcoma.The wild-type PAX3 protein is also expressed in other cancers related to developmental lineages that normally express ths protein and phenotypic effects related to its normal developmental role.The PAX3 gene encodes amember of the PAX family of transcription factorsthat is characterized by a highly conserved paired box motif.The PAX3 protein I a transcription factor consisting of an N-terminal DNA binding domain and a C-terminal transcriptional activation domain.This protein is expressed during development of skeletal muscle,central nervous system and neural crest derivations,and regulates expression of target genes that impact on proliferation,survival,differentiation and motility in these lineages.Germline mutations of the murine Pax3 and human PAX3 genescause deficiencies in these developmental lineages and result in the splotch phenotype and Waardenburg syndrome,respectively.Somatic genetic rearrangements that juxtapose the PAX3 DNA binding domain to the transcriptional activation domain of other transcription factors deregulate PAX3 function and contribute to the pathogenesis of the soft tissue cancers alveolar rhabodmyosarcoma and biphenotypic sinonasal sarcoma.The wild-type PAX3 protein is also expressed in other cancers related to developmental lineages that normally express ths protein and phenotypic effects related to its normal developmental role.

Elements regulating PAX3 expression.The cis-actng elements ,theor positon relativeto the PAX3 gene and relevant transcription factors involved in the regulation of PAX3 expression are shown.