4/3/2023 0 Comments Shannon pikka model4,5 Although, there is limited molecular characterization of Wdr34 and Wdr60 in mammals, the Chlamydomonas reinhardtii orthologs of Wdr34 (FAP133) and Wdr60 (FAP163) have been characterized as potential dynein intermediate chains required for retrograde IFT. 4,5 Both Wdr34 and Wdr60 localize to the base of the cilium in human ciliated cells and WDR60 mutant cells from SRPS affected individuals have a drastic decrease in their ability to form cilia. 3 Recently, mutations in the WDR34 and WDR60 genes were identified in SRPS. To date at least 10 genes have been identified to be responsible for SRPS, most of which are involved in retrograde intraflagellar transport (IFT) ( IFT43, IFT122, WDR19, WDR35, TTC21B, and DYNC2H1) or basal body homeostasis ( NEK1, EVC, and EVC2). 2 Among the ciliopathy disease spectrum are the short-rib polydactyly syndromes (SRPS) that include Jeune asphyxiating thoracic dystrophy (JATD) and Ellis–van Creveld syndrome (EVC), which are characterized by shortened ribs and tubular bones, a constricted thoracic cage, and polydactyly. 1 Of interest, mutation of the machinery critical for the establishment and function of the cilia manifests itself as a group of disorders collectively known as ciliopathies. Primary cilia are microtubule-based organelles that project from almost all vertebrate cells into the extracellular matrix and are critical for sensing the external environment (including photosensation and mechanosensation) and transducing these signals into cellular decisions (including cell growth and differentiation).
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