Unknown

Dataset Information

0

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.

SUBMITTER: Gholkar AA 

PROVIDER: S-EPMC4614626 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.

Gholkar Ankur A AA   Senese Silvia S   Lo Yu-Chen YC   Capri Joseph J   Deardorff William J WJ   Dharmarajan Harish H   Contreras Ely E   Hodara Emmanuelle E   Whitelegge Julian P JP   Jackson Peter K PK   Torres Jorge Z JZ  

Cell cycle (Georgetown, Tex.) 20150101 7

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 deplet  ...[more]

Similar Datasets

Unknown IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
| S-EPMC5291235 | biostudies-literature
Unknown NEK1 mutations cause short-rib polydactyly syndrome type majewski.
| S-EPMC3014367 | biostudies-literature
Unknown Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
| S-EPMC3071922 | biostudies-literature
Unknown Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
| S-EPMC4470332 | biostudies-literature
Unknown DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
| S-EPMC2681009 | biostudies-literature
Unknown Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
| S-EPMC2667993 | biostudies-literature
Unknown Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
| S-EPMC4573270 | biostudies-literature
Unknown A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome.
| S-EPMC4452873 | biostudies-literature
Unknown An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
| S-EPMC5291234 | biostudies-literature
Unknown Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
| S-EPMC3769922 | biostudies-literature