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. Author manuscript; available in PMC: 2015 Feb 5.
Published in final edited form as: Int Rev Neurobiol. 2013;113:251–267. doi: 10.1016/B978-0-12-418700-9.00008-3

Figure 2. Proposed Model for RBFOX1 Dysregulation in Autism Spectrum Disorder.

Figure 2

During neurodevelopment, RBFOX1 regulates large genetic networks via direct effects on RNA splicing, mRNA stability, and transcriptional regulation as well as indirect effects on gene transcription leading to normal neuronal development. If this function is disrupted (e.g., by haploinsufficiency of RBFOX1), development is sufficiently perturbed resulting in autism spectrum disorder (ASD). As discussed in the text, RBFOX1 may play a further role in the adaptive response to cellular stress by regulating RNA splicing or transcriptional effects in response to environmental stimuli to maintain normal function. If this process is perturbed, this may also result in ASD. Inherited structural variation (CNVs) may damage RBFOX1 RNA processing or transcriptional signals and thus impair this adaptive response, thereby increasing the risk of ASD occurring upon exposure to certain environmental stressors during critical stages in neurodevelopment.