The pleiotropic transcriptional regulator coup-tfi plays multiple roles in neural development and disease.

The pleiotropic transcriptional regulator coup-tfi plays multiple roles in neural development and disease. Brain Res. 2018 Apr 27;: Authors: Bertacchi M, Parisot J, Studer M Abstract Transcription factors are expressed in a dynamic fashion both in time and space during brain development, and exert their roles by activating a cascade of multiple target genes. This implies that understanding the precise function of a transcription factor becomes a challenging task. In this review, we will focus on COUP-TFI (or NR2F1), a nuclear receptor belonging to the superfamily of the steroid/thyroid hormone receptors, and considered to be one of the major transcriptional regulators orchestrating cortical arealization, cell-type specification and maturation. Recent data have unraveled the multi-faceted functions of COUP-TFI in mouse brain development, including the neocortex, hippocampus and ganglionic eminences. However, despite NR2F1 mutations and deletions in humans have been linked to a complex neurodevelopmental disease mainly associated to optic atrophy and intellectual disability, its role during the formation of the retina and optic nerve remains unclear. In light of its major influence in cortical development, we predict that its haploinsufficiency might be the cause of other cognitive diseases, not identified so far. Mouse models offer a unique opportunity of dissecting COUP-TFI function in different regions during brain assembly; hence, ...
Source: Brain Research - Category: Neurology Authors: Tags: Brain Res Source Type: research