Year: 2023
Type: editorial
Abstract: Editorial on the Research Topic Signaling by primary cilia in development and diseasePrimary cilia are antenna-like cell structures that protrude in a single copy from the surface of most vertebrate cell types to detect extracellular cues that regulate embryonic patterning, organogenesis, and adult tissue/organ homeostasis.The capacity of primary cilia to detect and transduce signaling information into cellular processes relies on their unique complement of receptors, ion channels, and associated signal transduction modules, e.g., G protein-coupled receptor (GPCR), receptor tyrosine kinase (RTK), Hedgehog, Wnt, transforming growth factor-beta (TGFB)/bone morphogenetic protein (BMP), and extracellular matrix (ECM) signaling (Wheway et al., 2018;Anvarian et al., 2019).All cilia are compartmentalized by a transition zone (TZ), a specialized gating structure found at cilia base, that controls the entry and exit of proteins, including receptors, and thereby the signaling properties of the primary cilium.Consequently, mutations in genes that encode TZ components or proteins that regulate ciliary assembly and intraciliary trafficking processes cause a spectrum of more than 35 human diseases and syndromes, collectively called ciliopathies, that are commonly associated with obesity, renal anomalies, neurodevelopmental and psychiatric impairment, craniofacial and skeletal defects and congenital heart disease (Reiter and Leroux, 2017).Our Research Topic comprises the reviews and research articles that examine the function of select ciliary genes and signaling systems during embryonic development, highlight tissue-specific mechanisms in cilia assembly and localization of ciliary signaling proteins, and discuss how defects in these ciliary systems translate into ciliopathies.Multiple protein complexes are required for assembly and sensory properties of primary cilia.A modified mother centriole called the basal body anchors the cilium to the cell membrane in part via distal appendage proteins (DAPs) (Tanos et al., 2013).Removal of the centrosomal protein 110 (CP110) from the distal end of the mother centriole initiates the ciliary assembly.The work from Lee et al. demonstrated the differential role of the DAP, sodium channel and clathrin linker 1 (Sclt1) in ciliogenesis during embryonic fore-and hindlimb development in novel Sclt1 mutant mice.Sclt1 regulates ciliogenesis in developing hindlimb mesenchymal cells by facilitating recruitment of Ttbk2 and removal of Cp110 from the mother centriole, which is associated with a response to Sonic hedgehog signaling.The authors provide the tissue-specific DAP assembly programs during embryonic limb
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,295
OpenAlex ID: W4328119005