Reciprocal regulation between autism risk gene POGZ and circadian clock - PubMed
4 hours ago
- #Neurodevelopment
- #Circadian Rhythm
- #Autism Spectrum Disorder
- Sleep disturbance is a common but poorly understood comorbidity in autism spectrum disorders (ASD).
- The ASD risk gene POGZ is widely expressed in the suprachiasmatic nucleus (SCN) and shows circadian oscillations in the hypothalamus and liver.
- POGZ's transcription is directly regulated by the circadian molecule DBP through a D-box element in its proximal enhancer.
- Pogz-deficient mice exhibited prolonged circadian periodicity, impaired light-induced phase shift, and delayed adaptation to jet-lag.
- POGZ interacts with and enhances the transcription activity of CREB, a key regulator of light-induced phase resetting.
- Pogz deletion leads to ASD-related deficits in social novelty and cognition, influenced by photoperiod and behavioral paradigm.
- The study reveals a critical intersection between an ASD risk gene and circadian clock, offering insights into ASD symptoms and sleep disturbances.