Repository logo
 
Publication

The interplay between KIAA0753 and TBCCD1 in the control of ciliogenesis and the cell cytoskeleton architecture

2019-11Conference object Open access
Simple item page
dc.contributor.authorFerreira, David C.
dc.contributor.authorCarmona, Bruno
dc.contributor.authorNolasco, Sofia
dc.contributor.authorMarinho, H. Susana
dc.contributor.authorSoares, Helena
dc.date.accessioned2020-06-11T11:02:35Z
dc.date.available2020-06-11T11:02:35Z
dc.date.issued2019-11
dc.descriptionProject IPL/2019/MOONOFCILI/ESTeSLpt_PT
dc.description.abstractAims/Context: Cilia are slender protuberances found in eukaryotic cells, consisting of a microtubule (MT)-based ciliary axoneme, which can confer motility and sensory functions to the cells. These organelles have a basal body, which can be derived from the centrosome and nucleates the ciliary axoneme. Centriolar satellites are protein granules located around the centrosome that play an essential role in centrosome and primary cilium assembly. Mutations in genes encoding centrosome and/or centriolar satellite components lead to various human disorders, such as ciliopathies. Previous work from our group characterized the interactome of a new centrosomal TBCC domain-containing human protein (TBCCD1). Included among the identified proteins were several well-known proteins encoded by ciliopathy genes, e.g., centrosomal and centriolar satellites protein KIAA0753 (also known as OFIP and Moonraker). KIAA0753 is mutated in several ciliopathic syndromes, e.g., Joubert syndrome. Methods: Immunofluorescent microscopy and Western blot were used to study the levels and cellular localization of components of centriolar satellites, cytoskeleton, and cilia, in human RPE1 cells overexpressing TBCCD1. Similarly, RPE1 cells depleted of either TBCCD1 or KIAA0753 were analyzed. Results: In RPE-1 cells, both the knockdown and overexpression of TBCCD1 affect the levels of KIAA0753, as well as its localization around the centrosome. This suggests that TBCCD1 plays a role in the recruitment of KIAA0753 to the centrosome. Regarding the levels of KIAA0753, we show that its depletion affects centriole connection with consequences on the organization of the MT network. This may compromise cell polarity, cell migration, and cilia assembly. Furthermore, we show that KIAA0753 localizes in the basal body and along the axoneme of cilia, which points to a role in ciliogenesis. Conclusions: Our results support a new function for KIAA0753 in centrosome structure maintenance, as well as a new functional interaction between TBCCD1 and KIAA0753, suggesting a new pathway in ciliopathy development.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFerreira DC, Carmona B, Nolasco S, Marinho HS, Soares H. The interplay between KIAA0753 and TBCCD1 in the control of ciliogenesis and the cell cytoskeleton architecture. In: 23rd Annual Meeting da Sociedade Portuguesa de Genética Humana, Fundação Bissaya Barreto, Bencanta (Coimbra), 14 a 16 de novembro de 2019.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/11822
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relationProject IPL/2019/MOONOFCILI/ESTeSLpt_PT
dc.relation.publisherversionhttps://journals.lww.com/md-journal/pages/results.aspx?txtKeywords=Proceedings+of+the+23rd+Annual+Meeting+opt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectTBCCD1pt_PT
dc.subjectKIAA0753pt_PT
dc.subjectCiliapt_PT
dc.subjectCentrosomept_PT
dc.subjectIPL/2019/MOONOFCILI/ESTeSLpt_PT
dc.titleThe interplay between KIAA0753 and TBCCD1 in the control of ciliogenesis and the cell cytoskeleton architecturept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceCoimbrapt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
The interplay between KIAA0753 and TBCCD1 in the control of ciliogenesis and the cell cytoskeleton architecture.pdf
Size:
489.37 KB
Format:
Adobe Portable Document Format
Download

Collections

ESTeSL - Posters