Hook2 is involved in the morphogenesis of the primary cilium

Gaillard, Carole L. Baron; Pallesi-Pocachard, Emilie; Massey-Harroche, Dominique; Richard, Fabrice; Arsanto, Jean-Pierre; Chauvin, Jean‐Paul; Lécine, Patrick; Krämer, Helmut; Borg, Jean-Paul; Bivic, André Le

doi:10.1091/mbc.e11-05-0405

Cited by 56 publications

(73 citation statements)

References 42 publications

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“…The top 50 most prevalent missense SNPs among the 17 samples are presented in Table 2. The highest difference in the allele distribution between our dataset and ESP was estimated for rs2305376 in the gene HOOK2 , encoding a component of the FTS/Hook/FHIP (FHF) complex that has a role in vesicle trafficking and maintenance of centrosome function and is known to interact with the JUN proto-oncogene4041. Interestingly, the variant is predicted to be damaging change due to glycine to arginine substitution (p.G10R), which in addition to its low prevalence in the ESP datasets, is rare to absent in the European population datasets (see Table 2).…”

Section: Resultsmentioning

confidence: 92%

Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing

Horvath

Pakala

Mudvari

et al. 2013

Sci Rep

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Using RNA sequencing of triple-negative breast cancer (TNBC), non-TBNC and HER2-positive breast cancer sub-types, here we report novel expressed variants, allelic prevalence and abundance, and coexpression with other variation, and splicing signatures. To reveal the most prevalent variant alleles, we overlaid our findings with cancer- and population-based datasets and validated a subset of novel variants of cancer-related genes: ESRP2, GBP1, TPP1, MAD2L1BP, GLUD2 and SLC30A8. As a proof-of-principle, we demonstrated that a rare substitution in the splicing coordinator ESRP2 (R353Q) impairs its ability to bind to its substrate FGFR2 pre-mRNA. In addition, we describe novel SNPs and INDELs in cancer relevant genes with no prior reported association of point mutations with cancer, such as MTAP and MAGED1. For the first time, this study illustrates the power of RNA-sequencing in revealing the variation landscape of breast transcriptome and exemplifies analytical strategies to search regulatory interactions among cancer relevant molecules.

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Section: Resultsmentioning

confidence: 92%

Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing

Horvath

Pakala

Mudvari

et al. 2013

Sci Rep

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“…Because CCDC41 and IFT20 depend on each other for correct localization, we were not able to test whether CCDC41 plays a role independent of IFT20 in the formation or docking of ciliary vesicles. Previously it was shown that hook homolog 2 (Hook2) accumulates at the centrosome and plays a role in the formation of pericentriolar vesicles (35). However, because it accumulates broadly at the pericentriolar area, Hook2 is unlikely to be sufficient for directing the final docking step of the vesicle to distal appendages.…”

Section: Discussionmentioning

confidence: 99%

CCDC41 is required for ciliary vesicle docking to the mother centriole

Joo¹,

Kim²,

Lee

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

139

153

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The initiation of primary cilium assembly entails the docking of ciliary vesicles presumably derived from the Golgi complex to the distal end of the mother centriole. Distal appendages, which anchor the mother centriole to the plasma membrane, are thought to be involved in the docking process. However, little is known about the molecular players and mechanisms that mediate the vesicle-centriole association. Here we report that coiled-coil domain containing 41 (CCDC41) is required for the docking of ciliary vesicles. CCDC41 specifically localizes to the distal end of the mother centriole and interacts with centrosomal protein 164 (Cep164), a distal appendage component. In addition, a pool of CCDC41 colocalizes with intraflagellar transport protein 20 (IFT20) subunit of the intraflagellar transport particle at the Golgi complex. Remarkably, knockdown of CCDC41 inhibits the recruitment of IFT20 to the centrosome. Moreover, depletion of CCDC41 or IFT20 inhibits ciliogenesis at the ciliary vesicle docking step, whereas intraflagellar transport protein 88 (IFT88) depletion interferes with later cilium elongation steps. Our results suggest that CCDC41 collaborates with IFT20 to support the vesicle-centriole association at the onset of ciliogenesis.ciliopathy | axoneme

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“…It is of interest to point out that satellite-localising PCM1 is generally believed to be important to promote ciliogenesis [19, 20, 109, 113]. The result described earlier clearly indicates a more complex mode of centriolar satellite functions in controlling ciliogenesis because dispersed PCM1 (forming a complex with CEP131/AZI1) is still able to promote or even more potently induce ciliogenesis [58].…”

Section: Cellular Stress Responses and Centriolar Satellite Integritymentioning

confidence: 99%

Regulation of centriolar satellite integrity and its physiology

Hori

Toda

2016

Cell. Mol. Life Sci.

105

140

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Centriolar satellites comprise cytoplasmic granules that are located around the centrosome. Their molecular identification was first reported more than a quarter of a century ago. These particles are not static in the cell but instead constantly move around the centrosome. Over the last decade, significant advances in their molecular compositions and biological functions have been achieved due to comprehensive proteomics and genomics, super-resolution microscopy analyses and elegant genetic manipulations. Centriolar satellites play pivotal roles in centrosome assembly and primary cilium formation through the delivery of centriolar/centrosomal components from the cytoplasm to the centrosome. Their importance is further underscored by the fact that mutations in genes encoding satellite components and regulators lead to various human disorders such as ciliopathies. Moreover, the most recent findings highlight dynamic structural remodelling in response to internal and external cues and unexpected positive feedback control that is exerted from the centrosome for centriolar satellite integrity.

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Hook2 is involved in the morphogenesis of the primary cilium

Cited by 56 publications

References 42 publications

Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing

Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing

CCDC41 is required for ciliary vesicle docking to the mother centriole

Regulation of centriolar satellite integrity and its physiology

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