The PAX Genes: Roles in Development, Cancer, and Other Diseases
Open Access
Abstract
Since their 1986 discovery in Drosophila, Paired box (PAX) genes have been shown to play major roles in the early development of the eye, muscle, skeleton, kidney, and other organs. Consistent with their roles as master regulators of tissue formation, the PAX family members are evolutionarily conserved, regulate large transcriptional networks, and in turn can be regulated by a variety of mechanisms. Losses or mutations in these genes can result in developmental disorders or cancers. The precise mechanisms by which PAX genes control disease pathogenesis are well understood in some cases, but much remains to be explored. A deeper understanding of the biology of these genes, therefore, has the potential to aid in the improvement of disease diagnosis and the development of new treatments.Keywords
Funding Information
- NIH NIGMS (T32 GM142520)
- Intramural program of the NCI (T32 GM142520)
- Nathan’s Cancer Slayers (T32 GM142520)
- Alex’s Lemonade Stand Foundation (T32 GM142520)
- Children’s Cancer Foundation (T32 GM142520)
This publication has 186 references indexed in Scilit:
- Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 geneAmerican Journal of Medical Genetics Part A, 2018
- Review and update of mutations causing Waardenburg syndromeHuman Mutation, 2010
- Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmiaAmerican Journal of Medical Genetics Part A, 2009
- Sensorineural deafness, distinctive facial features, and abnormal cranial bones: A new variant of Waardenburg syndrome?American Journal of Medical Genetics Part A, 2008
- Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridiaAmerican Journal of Medical Genetics Part A, 2008
- PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B‐NHL with complex chromosomal rearrangementsGenes, Chromosomes and Cancer, 2005
- Co‐expression of alternatively spliced forms of PAX3, PAX7, PAX3‐FKHR and PAX7‐FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcomaInternational Journal of Cancer, 2005
- When Ets transcription factors meet their partnersBioEssays, 2002
- Pax-2, kidney development, and oncogenesisMedical and Pediatric Oncology, 1996
- Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndromeHuman Mutation, 1996