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1. Genetic regulation of RNA splicing in human pancreatic islets

Author

Atla, Goutham, Bonàs-Guarch, Sílvia, Cuenca-Ardura, Mirabai, Beucher, Anne-Bérangère, Crouch, Daniel, Garcia-Hurtado, Javier, Morán, Ignasi, Cnop, Miriam, Eliasson, Lena, Esguerra, Jonathan JL, Eizirik, Décio L, Groop, Leif, Jensen, Thomas S., Hansen, Torben, Marchetti, Piero, Mercader, Josep JM, Mulder, Hindrik, Stabile-Barnett, Chris, Thirion, C., Torrents, David, Irimia, Manuel MI, Prasad, Rashmi, Gloyn, Anna L, Marselli, Lorella, Suleiman, Mara, Berney, Thierry, de Koning, E J P, Kerr-Conte, Julie, Pattou, François, Todd, John A, Piemonti, Lorenzo, Ferrer, Jorge, Atla, Goutham, Bonàs-Guarch, Sílvia, Cuenca-Ardura, Mirabai, Beucher, Anne-Bérangère, Crouch, Daniel, Garcia-Hurtado, Javier, Morán, Ignasi, Cnop, Miriam, Eliasson, Lena, Esguerra, Jonathan JL, Eizirik, Décio L, Groop, Leif, Jensen, Thomas S., Hansen, Torben, Marchetti, Piero, Mercader, Josep JM, Mulder, Hindrik, Stabile-Barnett, Chris, Thirion, C., Torrents, David, Irimia, Manuel MI, Prasad, Rashmi, Gloyn, Anna L, Marselli, Lorella, Suleiman, Mara, Berney, Thierry, de Koning, E J P, Kerr-Conte, Julie, Pattou, François, Todd, John A, Piemonti, Lorenzo, and Ferrer, Jorge

Abstract

Background Non-coding genetic variants that influence gene transcription in pancreatic islets play a major role in the susceptibility to type 2 diabetes (T2D), and likely also contribute to type 1 diabetes (T1D) risk. For many loci, however, the mechanisms through which non-coding variants influence diabetes susceptibility are unknown. Results We examine splicing QTLs (sQTLs) in pancreatic islets from 399 human donors and observe that common genetic variation has a widespread influence on the splicing of genes with established roles in islet biology and diabetes. In parallel, we profile expression QTLs (eQTLs) and use transcriptome-wide association as well as genetic co-localization studies to assign islet sQTLs or eQTLs to T2D and T1D susceptibility signals, many of which lack candidate effector genes. This analysis reveals biologically plausible mechanisms, including the association of T2D with an sQTL that creates a nonsense isoform in ERO1B ,a regulator of ER-stress and proinsulin biosynthesis. The expanded list of T2D risk effector genes reveals overrepresented pathways, including regulators of G-protein-mediated cAMP production. The analysis of sQTLs also reveals candidate effector genes for T1D susceptibility such as DCLRE1B ,a senescence regulator, and lncRNA MEG3 .Conclusions These data expose widespread effects of common genetic variants on RNA splicing in pancreatic islets. The results support a role for splicing variation in diabetes susceptibility, and offer a new set of genetic targets with potential therapeutic benefit., info:eu-repo/semantics/published

Published
2022

2. RNA-sequencing identifies Nova1 as a major splicing regulator in pancreatic beta cells.

Author

1st National Diabetes Excellence Summit. 25 April 2015, Bruxelles, Belgium. (Poster), Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, De Araujo Nogueira, Tatiane, Andrade Da Cunha, Daniel, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, Eizirik, Decio L., 1st National Diabetes Excellence Summit. 25 April 2015, Bruxelles, Belgium. (Poster), Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, De Araujo Nogueira, Tatiane, Andrade Da Cunha, Daniel, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, and Eizirik, Decio L.

Abstract

info:eu-repo/semantics/nonPublished

Published
2015

3. Nova1 is a master regulator of alternative splicing in pancreatic beta cells.

Author

Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Nardelli, Tarlliza R, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, Eizirik, Decio L., Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Nardelli, Tarlliza R, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, and Eizirik, Decio L.

Abstract

Alternative splicing (AS) is a fundamental mechanism for the regulation of gene expression. It affects more than 90% of human genes but its role in the regulation of pancreatic beta cells, the producers of insulin, remains unknown. Our recently published data indicated that the 'neuron-specific' Nova1 splicing factor is expressed in pancreatic beta cells. We have presently coupled specific knockdown (KD) of Nova1 with RNA-sequencing to determine all splice variants and downstream pathways regulated by this protein in beta cells. Nova1 KD altered the splicing of nearly 5000 transcripts. Pathway analysis indicated that these genes are involved in exocytosis, apoptosis, insulin receptor signaling, splicing and transcription. In line with these findings, Nova1 silencing inhibited insulin secretion and induced apoptosis basally and after cytokine treatment in rodent and human beta cells. These observations identify a novel layer of regulation of beta cell function, namely AS controlled by key splicing regulators such as Nova1., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2014

4. RNA-sequencing identifies Nova1 as a major splicing regulator in pancreatic beta cells

Author

EASD 2014, 50th Annual Meeting of the European Association for the Study of Diabetes (15 - 19 September 2014: Vienna, Austria. (Oral Presentation)), Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, Eizirik, Decio L., EASD 2014, 50th Annual Meeting of the European Association for the Study of Diabetes (15 - 19 September 2014: Vienna, Austria. (Oral Presentation)), Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, and Eizirik, Decio L.

Abstract

info:eu-repo/semantics/nonPublished

Published
2014

5. RNA-sequencing identifies Nova1 as a major splicing regulator in pancreatic beta cells

Author

EASD 2014, 50th Annual Meeting of the European Association for the Study of Diabetes (15 - 19 September 2014: Vienna, Austria. (Oral Presentation)), Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, Eizirik, Decio L., EASD 2014, 50th Annual Meeting of the European Association for the Study of Diabetes (15 - 19 September 2014: Vienna, Austria. (Oral Presentation)), Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, and Eizirik, Decio L.

Abstract

info:eu-repo/semantics/nonPublished

Published
2014

6. Nova1 is a master regulator of alternative splicing in pancreatic beta cells.

Author

Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Nardelli, Tarlliza R, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, Eizirik, Decio L., Villate, Olatz, Turatsinze, Jean Valéry, Mascali, Loriana, Grieco, Fabio Arturo, Nogueira, Tatiane C, Andrade Da Cunha, Daniel, Nardelli, Tarlliza R, Sammeth, Michael, Salunkhe, Vishal VA, Esguerra, Jonathan JL, Eliasson, Lena, Marselli, Lorella, Marchetti, Piero, and Eizirik, Decio L.

Abstract

Alternative splicing (AS) is a fundamental mechanism for the regulation of gene expression. It affects more than 90% of human genes but its role in the regulation of pancreatic beta cells, the producers of insulin, remains unknown. Our recently published data indicated that the 'neuron-specific' Nova1 splicing factor is expressed in pancreatic beta cells. We have presently coupled specific knockdown (KD) of Nova1 with RNA-sequencing to determine all splice variants and downstream pathways regulated by this protein in beta cells. Nova1 KD altered the splicing of nearly 5000 transcripts. Pathway analysis indicated that these genes are involved in exocytosis, apoptosis, insulin receptor signaling, splicing and transcription. In line with these findings, Nova1 silencing inhibited insulin secretion and induced apoptosis basally and after cytokine treatment in rodent and human beta cells. These observations identify a novel layer of regulation of beta cell function, namely AS controlled by key splicing regulators such as Nova1., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2014

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