Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue maintenance and renewal. A unique feature of the vertebrate Hh pathway is that signal transduction requires the primary cilium (PC) where major pathway components are dynamically enriched. These factors include smoothened (SMO) and patched, which constitute the core reception system for sonic hedgehog (SHH) as well as GLI transcription factors, the key mediators of the pathway.

Source: The American Journal of Human Genetics - May 13, 2020 Category: Genetics & Stem Cells Authors: Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, C éline Huber, Chelsea Kois, Geneviève Baujat, Christopher T. Gordon, Valerie Mayne, Louise Galmiche, Valérie Serre, Nicolas Goudin, Mohammed Zarhrate, Christine Bole-Feysot, Cécile Masson, Patrick Nitschk Tags: Article Source Type: research