Since their 1986 discovery inDrosophila, 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.
自1986年在果蝇中被发现以来,配对盒(PAX)基因已被证实在眼睛、肌肉、骨骼、肾脏及其他器官的早期发育过程中发挥关键作用。作为组织形成的主要调控因子,PAX家族成员具有进化保守性,能够调控大型转录网络,并受多种机制调节。这些基因的缺失或突变可能导致发育障碍或癌症。在某些情况下,PAX基因控制疾病发病机制的确切机制已得到充分理解,但仍有大量未知领域有待探索。因此,深入理解这些基因的生物学特性,有望为改进疾病诊断和开发新型治疗方法提供重要依据。
The PAX Genes: Roles in Development, Cancer, and Other Diseases