{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CEP120 is a pivotal centrosomal protein that localizes preferentially to the daughter centriole and plays multiple essential roles in centriole biogenesis and cilia assembly. It functions as a positive regulator of centriole elongation and duplication by engaging in direct interactions with key partners—including CPAP, SPICE1, Talpid3, and KIAA0753—to promote the proper assembly of centriolar microtubules and maturation of daughter centrioles."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n By facilitating the formation of distal and subdistal appendages on centrioles, CEP120 is essential for the transformation of centrioles into basal bodies that can effectively template the formation of primary cilia. Loss of CEP120 function—either through genetic depletion or pathogenic mutations—results in abnormally short centrioles lacking critical appendage components and leads to defective ciliogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Moreover, overexpression of CEP120 or its binding partners can drive excessive centriole elongation, underscoring its dosage‐dependent control over centriole architecture."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its structural roles, CEP120 is critical for proper cell signaling and development. Mutations in CEP120 have been associated with complex ciliopathies—including Joubert syndrome and Jeune asphyxiating thoracic dystrophy—as they compromise the recruitment of proteins (such as C2CD3 and Talpid3) required for centriole appendage assembly and consequent cilia formation. These aberrations disrupt key developmental processes, for example, in neural progenitor proliferation and cerebellar differentiation, linking CEP120 dysfunction to neurodevelopmental as well as skeletal anomalies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}, {"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore CEP120 as a crucial organizer of centriole structure and a key upstream regulator of cilia formation. Its precise regulation is essential not only for maintaining centrosome homeostasis but also for orchestrating developmental signaling pathways; disruptions in its function contribute to a spectrum of human ciliopathies and neurodevelopmental disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "David Comartin, Gagan D Gupta, Eden Fussner, et al. 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