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From cilia to cancer: the two splicing variants of the human TBCCD1 gene

2023-07Conference object Open access
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dc.contributor.authorCarmona, Bruno
dc.contributor.authorJustino, Gonçalo
dc.contributor.authorMatos, Catarina
dc.contributor.authorPádua, Mário
dc.contributor.authorNolasco, Sofia
dc.contributor.authorMarinho, Susana H.
dc.contributor.authorSoares, Helena
dc.date.accessioned2023-08-01T17:46:33Z
dc.date.available2023-08-01T17:46:33Z
dc.date.issued2023-07
dc.descriptionFunds are from Instituto Politécnico de Lisboa, IPL/2017/CILIOPAT/ESTeSL.pt_PT
dc.description.abstractAlmost all human genes that contain multiple exons undergo alternative splicing. Therefore, a single gene can originate multiple mRNA isoforms which causes a dramatic increase in the variability of the expected proteome. Noteworthy, phenotypic variability and disease susceptibility in human populations are related to alternative splicing. Published work from our group identified a new human centrosomal protein, TBCC domain-containing 1 (TBCCD1). Our studies revealed that this gene undergoes alternative splicing producing at least two transcripts encoding proteins. Here we analyze the differential functions of the two splicing variants (TBCCD1v1 and TBCCD1v2). Both variants present distinct cellular localization being TBCCD1v1 essentially centrosomal, whereas TBCCD1v2 is cytoplasmatic. The screening for TBCCD1v2 proximity interactome using BioID identified 19 proteins that functionally group in kinetochore, MT/cilia, and DNA-binding proteins. Striking, the overexpression of TBCCD1v2 decreases the levels of the kinetochore protein CENP-M, a protein upregulated in tumors. On the other hand, the TBCCD1v1 is involved in MT organization and is required to maintain the distal structure of the mother centriole. Our BioID screening for TBCCD1v1 interactors revealed 82 distinct proteins including several well-known proteins encoded by ciliopathy genes. A wider analysis of how TBCCD1v1 levels impact cellular physiological proteome showed that the group of proteins presenting fold changes in their levels vs control cells is enriched in proteins involved in focal adhesions, namely HSPA5/GRP-78/BiP, PDIA3, RPS10, MSN, TGM2, and PPP1R12A. Together our results show that we are still far from having a complete picture of the functional importance of TBCCD1 and how its deregulation may be associated not only with the development of ciliopathies but also with more common diseases like cancer.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCarmona B, Justino G, Matos C, Pádua M, Nolasco S, Soares H, et al. From cilia to cancer: the two splicing variants of the human TBCCD1 gene. In: V H&TRC Bootcamp 2023, Caldas da Rainha, 10 de julho de 2023.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/16361
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.relationIPL/2017/CILIOPAT/ESTeSLpt_PT
dc.relation.publisherversionhttps://htrcenter.wordpress.com/2023/06/26/v-bootcamp-july-2023/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectTBCCD1pt_PT
dc.subjectSplicing variantspt_PT
dc.subjectIPL/2017/CILIOPAT/ESTeSLpt_PT
dc.titleFrom cilia to cancer: the two splicing variants of the human TBCCD1 genept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceCaldas da Rainhapt_PT
person.familyNameSousa Carmona
person.familyNameAntunes Soares
person.givenNameBruno Filipe
person.givenNameMaria Helena
person.identifierG-3065-2010
person.identifier.ciencia-id681F-6045-F8C2
person.identifier.ciencia-id131B-F0E1-572C
person.identifier.orcid0000-0003-0871-9063
person.identifier.orcid0000-0001-6180-7041
person.identifier.scopus-author-id55932139400
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication908e548e-eaac-4485-97c5-fcbd33fe7e5a
relation.isAuthorOfPublication267fae06-39c1-4b12-a246-39e0b1dde34a
relation.isAuthorOfPublication.latestForDiscovery267fae06-39c1-4b12-a246-39e0b1dde34a

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