The PAX Genes: Roles in Development, Cancer, and Other Diseases

Simple Summary Humans possess a group of nine related genes that form the PAX gene family. These genes encode proteins known as the PAX transcription factors, which control gene expression on a large scale and coordinate the development of bodily structures such as the eyes and muscles. The biological functions of PAX genes can be regulated by chemical modifications to their protein structures, interactions with other proteins, and changes in splicing, which can produce different versions of PAX proteins. Mutations in PAX genes can contribute to human diseases such as hypothyroidism, diabetes, and cancer. Further research into the functional consequences of these mutations could uncover novel treatments for these diseases.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.