COUP-TF Genes, Human Diseases, and the Development of the Central Nervous System in Murine Models.

COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects. In this review, we first describe the functions of COUP-TF genes in the morphogenesis of mouse forebrain including cerebral cortex, hippocampus, amygdala complex, hypothalamus, and cortical interneuron. Then, we address their roles in the development of cerebellum, glial cells, neural crest cells, and adult neuronal stem cells. Clearly, the investigations on the functions of COUP-TF genes in the developing mouse central nervous system will benefit not only the understanding of neurodevelopment, but also the etiology of human mental diseases.