Planar cell polarity genes, Celsr1-3, in neural development

Abstract

flamingo is among the 'core' planar cell-polarity genes, protein of which belongs to a unique cadherin subfamily.In contrast to the classic cadherins, composed of several extracellular cadherin repeats, one transmembrane domain and one cytoplasmic segment linked to catenin binding, Drosophila Flamingo has seven transmembrane segments and a cytoplasmic tail with no catenin-binding sequence. In Drosophila, Flamingo has pleotropic roles in controlling epithelial polarity and neuronal morphogenesis. Three mammalian orthologs of flamingo, Celsr1-3, are widely expressed in the nervous system. Recent work has shown that Celsr1-3 play important roles in neural development, such as in axon guidance, neuronal migration, and cilium polarity. Celsr1-3 single-gene knockout mice exhibit different phenotypes, but there are cooperative interactions among these genes.

Re-programing Chromatin with a Bifunctional LSD1/HDAC Inhibitor Induces Therapeutic Differentiation in DIPG

“…These data suggest that LSD1 and HDACs might associate with REST and other factors to create a repressive chromatin environment in untreated cells and that Corin blocks the removal of activating chromatin marks by LSD1 and HDACs at these regions. This hypothesis is exemplified by increased H3K27ac and H3K4me1 near predicted REST-binding sites at the CELSR1 locus ( Figure 2F), which encodes a regulator of neuronal differentiation and brain development (Boucherie et al, 2018;Feng et al, 2012), and a Corin-dependent increase in H3K27ac and H3K4me1 at REST sites on a global scale ( Figure S5D). In contrast, motifs bound by MAFG and NR3C family nuclear receptors are enriched in regions where Corin induces H3K27me3 ( Figure 2D).…”

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

“…CELSR3 belongs to the flamingo subfamily of non-classic cadherins, which are defined by non-interaction with catenins and seven transmembrane domains (Feng et al, 2012). The protein encoded by this gene may be involved in the regulation of contact-dependent neurite outgrowth (Chai et al, 2015).…”

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome

“…CELSR1 is a developmentally regulated, neural‐specific gene involved in early embryogenesis. Recent work has shown that Celsr1 play important roles in neural development, such as in axon guidance and neuronal migration (Feng, Han, & Zhou, ). From a clinical point of view, coding mutations of CELSR1 were associated to neural tube defect both in mouse (Curtin et al, ) than in men (De Marco et al, ).…”