title: Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs.
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.
authors.affiliation: Department of Life and Reproduction Sciences, University of Verona, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Prandini
authors.affiliation: Department of Life and Reproduction Sciences, University of Verona, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Zusi
authors.affiliation: Department of Life and Reproduction Sciences, University of Verona, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Malerba
authors.affiliation: ITAN: Italian Autism Network, Italy.
authors.lastname: Itan
authors.affiliation: Department of Life and Reproduction Sciences, University of Verona, Italy.
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.affiliation: Department of Life and Reproduction Sciences, University of Verona, Italy. Electronic address: elisabetta.trabetti@univr.it.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Trabetti
mesh_terms: D000293:Adolescent; D002460:Cell Line; D002478:Cells, Cultured; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D015870:Gene Expression; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007558:Italy; D008214:Lymphocytes / Q000378:metabolism*; D008297:Male; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D035781:Siblings
chemical_list: C455479:RBFOX1 protein, human; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins
keywords: Autism; Gene expression; Lymphoblastoid cell lines; Lymphocytes; RBFOX1 gene