title: Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.
abstract: Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intraflagellar transport (IFT) and basal body homeostasis, which are critical for cilia assembly and function. Recently, mutations in WDR34 or WDR60 (candidate dynein intermediate chains) were identified in SRPS. We have identified and characterized Tctex1d2, which associates with Wdr34, Wdr60 and other dynein complex 1 and 2 subunits. Tctex1d2 and Wdr60 localize to the base of the cilium and their depletion causes defects in ciliogenesis. We propose that Tctex1d2 is a novel dynein light chain important for trafficking to the cilium and potentially retrograde IFT and is a new molecular link to understanding SRPS pathology.
authors.affiliation: a Department of Chemistry and Biochemistry ; University of California ; Los Angeles , CA USA.
authors.forename: Ankur A
authors.initials: AA
authors.lastname: Gholkar
authors.forename: Silvia
authors.initials: S
authors.lastname: Senese
authors.forename: Yu-Chen
authors.initials: YC
authors.lastname: Lo
authors.forename: Joseph
authors.initials: J
authors.lastname: Capri
authors.forename: William J
authors.initials: WJ
authors.lastname: Deardorff
authors.forename: Harish
authors.initials: H
authors.lastname: Dharmarajan
authors.forename: Ely
authors.initials: E
authors.lastname: Contreras
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Hodara
authors.forename: Julian P
authors.initials: JP
authors.lastname: Whitelegge
authors.forename: Peter K
authors.initials: PK
authors.lastname: Jackson
authors.forename: Jorge Z
authors.initials: JZ
authors.lastname: Torres
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism*; D002352:Carrier Proteins / Q000378:metabolism*; D002923:Cilia / Q000502:physiology*; D003598:Cytoskeletal Proteins; D004398:Dyneins / Q000378:metabolism*; D057809:HEK293 Cells; D006367:HeLa Cells; D006801:Humans; D022101:Microtubule-Organizing Center / Q000378:metabolism; D009154:Mutation; D021381:Protein Transport; D012779:Short Rib-Polydactyly Syndrome / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D004398:Dyneins; C000593114:DYNLT2B protein, human; C543203:WDR34 protein, human; C584144:DYNC2I1 protein, human
keywords: Cilia; Tctex1d2; Wdr60; ciliogenesis; dynein
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