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

Autor: Prandini, Paola, Zusi, Chiara, Malerba, Giovanni, Itan, Null, Pignatti, Pier Franco, Trabetti, Elisabetta, Allibrio, Giovanni, Amato, Maria Cristina, Anchisi, Laura, Andruccioli, Milena, Battistella, PIER ANTONIO, Benedetti, Sveva, Benvenuto, Arianna, Boscaini, Flavio, Canetta, Elisabetta, Cangini, Alessandra, Conti, Sara, Curatolo, Paolo, Bernardina, Bernardo Dalla, Da Ros, Lucio, De Giacomo, Andrea, Distefano, Grazia, Di Stefano, Maria Letizia, Di Vita, Giuseppa, Elia, Maurizio, Gitti, Filippo, Grittani, Serenella, Lafortezza, Mariaelena, Lamanna, Anna Linda, Mani, Elisa, Manzi, Barbara, Margari, Lucia, Marino, Maria, Masi, Gabriele, Molteni, Massimo, Muglia, Pierandrea, Nardocci, Franco, Parmeggiani, Antonia, Pascotto, Antonio, Patrini, Mara, Pias, Paola, Piroddi, Tiziana, Poledri, Sara, Polizzi, Miriam, Porfirio, Maria Cristina, Posar, Annio, Riccio, Maria Pia, Russo, Sebastiano, Santocchi, Elisa, Santucci, Margherita, Scifo, Renato, Tancredi, Raffaella, Tedde, Maria Rita, Tiberti, Alessandra, Valli, Angela, Dri, Valeria Vianello, Zanni, Roberta, Zoccante, Leonardo, Zuddas, Alessandro
Přispěvatelé: Paola Prandini, Chiara Zusi, Giovanni Malerba, ITAN […, Parmeggiani Antonia, Posar Annio, Santucci Margherita, …], Pier Franco Pignatti, Elisabetta Trabetti
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Popis: 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.
Databáze: OpenAIRE