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Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by loss of function of the maternally inherited copy of  UBE3A , an imprinted gene expressed biallelically in most tissues, but expressed exclusively from the maternal allele in neurons. Active transcription of the neuron-specific long non-coding RNA (lncRNA),  UBE3A-ATS,  has been shown to silence paternal  UBE3A . We hypothesized that alternative splicing factors RBFOX2 and RBFOX1 might mediate splicing changes and result in the transcription of  UBE3A-ATS  in neurons. We found that RBFOX2 and RBFOX1 both bind to  UBE3A-ATS  transcript in neurons, but are not required for gene expression and/or neuron-specific processing in the  SNURF/SNRPN-UBE3A  region. However, we found that depletion of RBFOX2 causes a proliferation phenotype in immature neural cultures, suggesting that RBFOX2 is involved in division versus differentiation decisions in iPSC-derived neural progenitors. Absence of RBFOX2 also altered the expression of some genes that are important for glutamatergic neocortical development and Wnt-Frizzled signalling in mature neuronal cultures. Our data show that while RBFOX1 and RBFOX2 do not mediate neuron-specific processing of  UBE3A-ATS , these proteins play important roles in developing neurons and are not completely functionally redundant.

RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing