Transcription Factors

FOX or Forkhead box Proteins are a family of transcriptional regulators that are defined by a conserved 100-amino acid DNA-binding domain. They regulate diverse cellular processes including differentiation, metabolism, development, proliferation, and apoptosis. Many are involved in embyrogensis and organogenesis. This includes the regulation of stem cells and progenitors.

The misregulation and/or mutation of FOX genes often induce human genetic diseases, promote cancer or deregulate ageing. Indeed, germinal FOX gene mutations cause diseases ranging from infertility to language and/or speech disorders and immunological defects.

Hypoxia contributes significantly to the pathophysiology of major categories of human disease, including myocardial and cerebral ischemia, cancer, pulmonary hypertension, congenital heart disease and chronic obstructive pulmonary disease

HIFs (Hypoxia-inducible factors) respond to changes in available oxygen, especially hypoxia. They are critical for mainting oxygen homeostasis and preventing hypoxia. They are also vital to development. In mammals, deletion of the HIF-1 genes results in perinatal death. HIF-1 has been shown to be vital to chondrocyte survival, allowing the cells to adapt to low-oxygen conditions within the growth plates of bones.

The developmentally important Sox family has no singular function, and many members possess the ability to regulate several different aspects of development. While many Sox genes are involved in sex determination, some are also important in processes such as neuronal development. For example, Sox2 and Sox3 are involved in the transition between epithelial granule cells in the cerebellum to their migratory state. Granule cells then differentiate to granule neurons, with Sox11 being involved in this process. It is thought that some Sox genes may be useful in the early diagnosis of childhood brain tumours due to this sequential expression in the cerebellum, making them a target for significant research

Basic Helix-Loop-Helix (bHLH) transcription factors are important in the development of cell activity.