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: Ankur A Gholkar, Silvia Senese, Yu-Chen Lo, Joseph Capri, William J Deardorff, Harish Dharmarajan, Ely Contreras, Emmanuelle Hodara, Julian P Whitelegge, Peter K Jackson, Jorge Z Torres
• Journal: Cell cycle (Georgetown, Tex.) (Cell Cycle) Vol. 14 Issue 7 Pg. 1116-25 ( 2015) ISSN: 1551-4005 [Electronic] United States
• PMID: 25830415 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S.)

Chemical References

• Adaptor Proteins, Signal Transducing
• Carrier Proteins
• Cytoskeletal Proteins
• TCTEX1D2 protein, human
• WDR34 protein, human
• WDR60 protein, human
• Dyneins

Topics

• Adaptor Proteins, Signal Transducing (metabolism)
• Carrier Proteins (metabolism)
• Cilia (physiology)
• Cytoskeletal Proteins
• Dyneins (metabolism)
• HEK293 Cells
• HeLa Cells
• Humans
• Microtubule-Organizing Center (metabolism)
• Mutation
• Protein Transport
• Short Rib-Polydactyly Syndrome (genetics)