The expression and function of PAX3 in development and disease
| Autor: | Bishwanath Chatterjee, Frederic G. Barr, Prasantha L. Vemu, Wenyue Sun, Salah Boudjadi |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
PAX3 Gene Expression Biology Article 03 medical and health sciences Germline mutation Genetics Animals Humans Waardenburg Syndrome PAX3 Transcription Factor Transcription factor Gene Alternative splicing Gene Expression Regulation Developmental Sarcoma General Medicine DNA-binding domain musculoskeletal system Phenotype Cell biology Gene Expression Regulation Neoplastic 030104 developmental biology Mutation embryonic structures Homeobox |
| Zdroj: | Gene. 666:145-157 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2018.04.087 |
| Popis: | The PAX3 gene encodes a member of the PAX family of transcription factors that is characterized by a highly conserved paired box motif. The PAX3 protein is a transcription factor consisting of an N-terminal DNA binding domain (containing a paired box and homeodomain) and a C-terminal transcriptional activation domain. This protein is expressed during development of skeletal muscle, central nervous system and neural crest derivatives, 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 genes cause 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 rhabdomyosarcoma and biphenotypic sinonasal sarcoma. The wild-type PAX3 protein is also expressed in other cancers related to developmental lineages that normally express this protein and exerts phenotypic effects related to its normal developmental role. |
| Databáze: | OpenAIRE |
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