The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies

Abstract

Ciliary transport in eukaryotic cells is an intricate and conserved process involving the coordinated assembly and functioning of a multiprotein intraflagellar transport (IFT) complex. Among the various IFT proteins, intraflagellar transport 52 (IFT52) plays a crucial role in ciliary transport and is implicated in various ciliopathies. IFT52 is a core component of the IFT‐B complex that facilitates movement of cargoes along the ciliary axoneme. Stable binding of the IFT‐B1 and IFT‐B2 subcomplexes by IFT52 in the IFT‐B complex regulates recycling of ciliary components and maintenance of ciliary functions such as signal transduction and molecular movement. Mutations in the IFT52 gene can disrupt ciliary trafficking, resulting in dysfunctional cilia and affecting cellular processes in ciliopathies. Such ciliopathies caused by IFT52 mutations exhibit a wide range of clinical features, including skeletal developmental abnormalities, retinal degeneration, respiratory failure and neurological abnormalities in affected individuals. Therefore, IFT52 serves as a promising biomarker for the diagnosis of various ciliopathies, including short‐rib thoracic dysplasia 16 with or without polydactyly. Here, we provide an overview of the IFT52‐mediated molecular mechanisms underlying ciliary transport and describe the IFT52 mutations that cause different disorders associated with cilia dysfunction.

Structure, function, and research progress of primary cilia in reproductive physiology and reproductive diseases

“…Among the IFT proteins, IFT172 emerges as the largest ( Wang et al, 2018 ), juxtaposed with IFT20, which represents the smallest counterpart ( Yuan et al, 2014 ). Functioning as a core constituent of the IFT-B complex, IFT52 assumes a pivotal responsibility in upholding the structural integrity of the entire assembly and expediting cargo movement along the ciliary axoneme, thereby implicating its involvement in a spectrum of ciliopathies ( Udupa and Ghosh, 2024 ). Peripheral protein assemblies of IFT-B exert pivotal functions in regulating IFT processes and orchestrating targeted vesicle trafficking from the Golgi network to the ciliary pocket ( Lee et al, 2018 ).…”