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

Mol Cell Probes. 2014 Oct-Dec;28(5-6):242-5. doi: 10.1016/j.mcp.2014.05.001. Epub 2014 Jun 3.

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.

Keywords: Autism; Gene expression; Lymphoblastoid cell lines; Lymphocytes; RBFOX1 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cell Line
  • Cells, Cultured
  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / pathology
  • Child, Preschool
  • Cohort Studies
  • Female
  • Gene Expression*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Italy
  • Lymphocytes / metabolism*
  • Male
  • RNA Splicing Factors
  • RNA-Binding Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Siblings

Substances

  • RBFOX1 protein, human
  • RNA Splicing Factors
  • RNA-Binding Proteins