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- W3116832015 abstract "Abstract Background: Neuropsychiatric disorders are highly heterogeneous and often display overlapping phenotypes, suggesting possible defects in common genetic networks. We previously reported pathogenic variants in deformed epidermal autoregulatory factor-1 (DEAF1) that contribute to DEAF1-associated neurodevelopmental disorder (DAND) and predicted that DEAF1 regulates expression of retinoic acid induced 1 (RAI1), the causative gene of Smith-Magenis syndrome (SMS) and Potocki-Lupski Syndrome (PTLS), through a putative DEAF1 binding sequence (DBS) in RAI1 intron 2, suggesting a common genetic network of these disorders that needs further study. Methods: In this study, we tested the DEAF1 binding and transcriptional regulation of RAI1 using luciferase reporter gene assay, EMSA and ChIP. We explored the upstream regulator of DEAF1 using bioinformatics analysis, qPCR and ChIP, and generated a potential network involving these genes based on patients’ phenotype and bioinformatics analysis. Results: We demonstrated that DEAF1 binds to the RAI1 DBS and regulates RAI1 expression in vitro, and a pathogenic variant in the DEAF1 SAND domain was defective in binding the RAI1 DBS. We also obtained evidence that DEAF1 expression is regulated by the transcription factor ZEB1 via predicted binding sites in DEAF1 intron 1. Microdeletions and variants in ZEB1 have been implicated in brain developmental disorders, including intellectual disability (ID), autism, agenesis of corpus callosum (ACC) and corneal dystrophy. Patients harboring deletions or pathogenic variants of ZEB1, DEAF1 or RAI1 display partially overlapped symptoms, including ID, autistic features, speech impairment, developmental delay and dysmorphologies. Conclusions: Together, these results provide evidence for a common molecular network in ZEB1-associated neurodevelopment disorder, DAND, SMS and PTLS." @default.
- W3116832015 created "2021-01-05" @default.
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- W3116832015 date "2020-12-29" @default.
- W3116832015 modified "2023-10-17" @default.
- W3116832015 title "Evidence for a Potential Common Gene Network of Smith-Magenis and Potocki-Lupski Syndromes, DAND (DEAF1-Associated Neurodevelopmental Disorder) and ZEB1-Associated Neurodevelopment Disorder" @default.
- W3116832015 doi "https://doi.org/10.21203/rs.3.rs-135772/v1" @default.
- W3116832015 hasPublicationYear "2020" @default.
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