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

作者：Prandini Paola; Zusi Chiara; Malerba Giovanni; Pignatti Pier Franco; Trabetti Elisabetta^*

来源：Molecular and Cellular Probes, 2014, 28(5-6): 242-245.

DOI：10.1016/j.mcp.2014.05.001

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

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 RBFOXI 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.

• 出版日期2014-12