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3. Interactions between BRD4S, LOXL2, and MED1 drive cell cycle transcription in triple‐negative breast cancer

Author

Pascual‐Reguant, Laura, primary, Serra‐Camprubí, Queralt, additional, Datta, Debayan, additional, Cianferoni, Damiano, additional, Kourtis, Savvas, additional, Gañez‐Zapater, Antoni, additional, Cannatá, Chiara, additional, Espinar, Lorena, additional, Querol, Jessica, additional, García‐López, Laura, additional, Musa‐Afaneh, Sara, additional, Guirola, Maria, additional, Gkanogiannis, Anestis, additional, Miró Canturri, Andrea, additional, Guzman, Marta, additional, Rodríguez, Olga, additional, Herencia‐Ropero, Andrea, additional, Arribas, Joaquin, additional, Serra, Violeta, additional, Serrano, Luis, additional, Tian, Tian V, additional, Peiró, Sandra, additional, and Sdelci, Sara, additional

Published
2023
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4. Stepwise emergence of the neuronal gene expression program in early animal evolution

Author

Najle, Sebastián R., primary, Grau-Bové, Xavier, additional, Elek, Anamaria, additional, Navarrete, Cristina, additional, Cianferoni, Damiano, additional, Chiva, Cristina, additional, Cañas-Armenteros, Didac, additional, Mallabiabarrena, Arrate, additional, Kamm, Kai, additional, Sabidó, Eduard, additional, Gruber-Vodicka, Harald, additional, Schierwater, Bernd, additional, Serrano, Luis, additional, and Sebé-Pedrós, Arnau, additional

Published
2023
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5. Specialization of the photoreceptor transcriptome by Srrm3 -dependent microexons is required for outer segment maintenance and vision

Author

Ciampi, Ludovica, primary, Mantica, Federica, additional, López-Blanch, Laura, additional, Permanyer, Jon, additional, Rodriguez-Marín, Cristina, additional, Zang, Jingjing, additional, Cianferoni, Damiano, additional, Jiménez-Delgado, Senda, additional, Bonnal, Sophie, additional, Miravet-Verde, Samuel, additional, Ruprecht, Verena, additional, Neuhauss, Stephan C. F., additional, Banfi, Sandro, additional, Carrella, Sabrina, additional, Serrano, Luis, additional, Head, Sarah A., additional, and Irimia, Manuel, additional

Published
2022
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10. Specialization of the photoreceptor transcriptome by Srrm3 -dependent microexons is required for outer segment maintenance and vision

Author

Laura Lopez-Blanch, Luis Serrano, Damiano Cianferoni, Federica Mantica, Jon Permanyer, Manuel Irimia, Sophie Bonnal, Sandro Banfi, Ludovica Ciampi, Cristina Rodríguez-Marin, Sabrina Carrella, Senda Jiménez-Delgado, Samuel Miravet-Verde, Sarah A. Head, Jingjing Zang, Verena Ruprecht, Stephan C.F. Neuhauss, Ciampi, Ludovica, Mantica, Federica, López-Blanch, Laura, Permanyer, Jon, Rodriguez-Marín, Cristina, Zang, Jingjing, Cianferoni, Damiano, Jiménez-Delgado, Senda, Bonnal, Sophie, Miravet-Verde, Samuel, Ruprecht, Verena, Neuhauss, Stephan C F, Banfi, Sandro, Carrella, Sabrina, Serrano, Lui, Head, Sarah A, and Irimia, Manuel

Subjects
retinal disease model, Regulator, Exon, Transcriptome, alternative splicing, chemistry.chemical_compound, Serine-Arginine Splicing Factor, Downregulation and upregulation, medicine, Zebrafish, Vision, Ocular, Retina, Multidisciplinary, biology, Animal, Protein, Cilium, Retinal, zebrafish, Retinal Photoreceptor Cell Outer Segment, biology.organism_classification, Cell biology, medicine.anatomical_structure, chemistry, Zebrafish Protein, sense organs, Gene Deletion, Biogenesis, Human
Abstract

Retinal photoreceptors have a distinct transcriptomic profile compared to other neuronal subtypes, likely reflecting their unique cellular morphology and function in the detection of light stimuli by way of the ciliary outer segment. We discovered a layer of this molecular specialization by revealing that the vertebrate retina expresses the largest number of tissue-enriched microexons of all tissue types. A subset of these microexons is included exclusively in photoreceptor transcripts, particularly in genes involved in cilia biogenesis and vesicle-mediated transport. This microexon program is regulated by Srrm3 , a paralog of the neural microexon regulator Srrm4 . Despite the fact that both proteins positively regulate retina microexons in vitro, only Srrm3 is highly expressed in mature photoreceptors. Its deletion in zebrafish results in widespread down-regulation of microexon inclusion from early developmental stages, followed by other transcriptomic alterations, severe photoreceptor defects, and blindness. These results shed light on the transcriptomic specialization and functionality of photoreceptors, uncovering unique cell type-specific roles for Srrm3 and microexons with implications for retinal diseases.

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