Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs

Paola Prandini, Chiara Zusi, Giovanni Malerba, [No Value] ITAN, Pier Franco Pignatti, Elisabetta Trabetti, Giovanni Allibrio, Maria Cristina Amato, Laura Anchisi, Milena Andruccioli, Pier Antonio Battistella, Sveva Benedetti, Arianna Benvenuto, Flavio Boscaini, Elisabetta Canetta, Alessandra Cangini, Sara Conti, Paolo Curatolo, Bernardo Dalla Bernardina, Lucio Da RosAndrea De Giacomo, Grazia Distefano, Maria Letizia Di Stefano, Giuseppa Di Vita, Maurizio Elia, Filippo Gitti, Serenella Grittani, Mariaelena Lafortezza, Anna Linda Lamanna, Elisa Mani, Barbara Manzi, Lucia Margari, Maria Marino, Gabriele Masi, Massimo Molteni, Pierandrea Muglia, Franco Nardocci, Antonia Parmeggiani, Antonio Pascotto, Mara Patrini, Paola Pias, Tiziana Piroddi, Sara Poledri, Miriam Polizzi, Maria Cristina Porfirio, Annio Posar, Maria Pia Riccio, Sebastiano Russo, Elisa Santocchi, Margherita Santucci, Renato Scifo, Raffaella Tancredi, Maria Rita Tedde, Alessandra Tiberti, Angela Valli, Valeria Vianello Dri, Roberta Zanni, Leonardo Zoccante, Alessandro Zuddas

Research output: Contribution to journalArticle

Abstract

Several lines of evidence suggest that RBFOX1 is a key regulator of transcriptional and splicing programs in neural cells during development, and that it is expressed in a neuronal module enriched for known autism susceptibility genes. We have investigated its expression by semiquantitative RT-PCR in accessible nonbrain resources in eighteen autism spectrum disorder sib-pairs belonging to the Italian Autism Network cohort. RBFOX1 gene expression was detected in lymphoblastoid cell lines but not in lymphocytes. No significant differences between autism spectrum disorders and non-affected brothers were found. We were not able to replicate in lymphoblastoid cell lines the previously reported RBFOX1 gene downregulation in autism, even if a trend was observed. This might be due to less pronounced transcription level differences in RBFOX1 gene expression in lymphoblastoid cell lines than in brain samples.

Original languageEnglish
Pages (from-to)242-245
Number of pages4
JournalMolecular and Cellular Probes
Volume28
Issue number5-6
DOIs
Publication statusPublished - Oct 1 2014

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Keywords

  • Autism
  • Gene expression
  • Lymphoblastoid cell lines
  • Lymphocytes
  • RBFOX1 gene

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Medicine(all)

Cite this

Prandini, P., Zusi, C., Malerba, G., ITAN, N. V., Pignatti, P. F., Trabetti, E., Allibrio, G., Amato, M. C., Anchisi, L., Andruccioli, M., Battistella, P. A., Benedetti, S., Benvenuto, A., Boscaini, F., Canetta, E., Cangini, A., Conti, S., Curatolo, P., Bernardina, B. D., ... Zuddas, A. (2014). Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs. Molecular and Cellular Probes, 28(5-6), 242-245. https://doi.org/10.1016/j.mcp.2014.05.001