• Open Access

Pax genes in embryogenesis and oncogenesis


Correspondence to: Professor Patricia KUMAR, School of Biology, Chemistry and Health Science, Manchester M1 5GD, United Kingdom. Tel.: (+44) 161 247 1218; Fax: (+44) 161 247 6365 E-mail: p.kumar@mmu.ac.uk


  • • Introduction
  • • PAX proteins and embryogenesis
  • • PAX genes and cancer
  • • PAX3 gene in embryogenesis and cancer
    • - PAX3 in myogenesis and RMS
    • - PAX3 in melanogenesis and melanoma
    • - PAX3 in neurogenesis and neuroblastoma
    • - PAY3splicing and tumours
  • • PAX2 in tumourigenesis
  • • PAX5 in tumourigenesis
  • • PAX8 in tumourigenesis
  • • PAX and the treatment of cancer
  • • Summary


The paired box genes are a family of nine developmental control genes, which in human beings (PAX) and mice (Pax) encode nuclear transcription factors. The temporal and spatial expressions of these highly conserved genes are tightly regulated during foetal development including organogenesis. PAY/Paxgenes are switched off during the terminal differentiation of most structures. Specific mutations within a number of PAX/Pax genes lead to developmental abnormalities in both human beings and mice. Mutation in PAX3 causes Waardenburg syndrome, and craniofacial-deafness-hand syndrome. The Splotch phenotype in mouse exhibits defects in neural crest derivatives such as, pigment cells, sympathetic ganglia and cardiac neural crest-derived structures. The PAX family also plays key roles in several human malignancies. In particular, PAX3 is involved in rhabdomyosarcoma and tumours of neural crest origin, including melanoma and neuroblastoma. This review critically evaluates the roles of PAX/Pax in oncogenesis. It especially highlights recent advances in knowledge of how their genetic alterations directly interfere in the transcriptional networks that regulate cell differentiation, proliferation, migration and survival and may contribute to oncogenesis.