From neural development to cognition: unexpected roles for chromatin
TLDR
Interestingly, mutations in EZH2 and certain BAF complex components have roles in both neurodevelopmental disorders and cancer, and overlapping point mutations are suggesting functionally important residues and domains.Abstract:
Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have revealed mutations in chromatin-modifying enzymes, such as chromatin remodellers and histone-modifying enzymes. Such studies are improving our understanding of the roles of these modifiers in human neurodevelopment, and this article discusses the emerging roles for several of these enzymes in development and disease.read more
Citations
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A de novo variant of CHD8 in a patient with autism spectrum disorder.
Maha Alotaibi,Khushnooda Ramzan +1 more
TL;DR: The findings elaborate the genotype-phenotype correlation and confirm that the CHD8 disruptions represent a clinical ASD subtype and further highlight the significance of implementing genomic medicine in clinical practice for an early intervention and necessary support for the families.
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Central nervous system-specific knockout of Brg1 causes growth retardation and neuronal degeneration.
TL;DR: The effects of conditional knockout of the Brahma-related gene-1 (Brg1) in the mouse central nervous system on postnatal development were assessed to provide an insight in chromatin remodeling regulation in postnatal neuronal development.
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Akirin proteins in development and disease: critical roles and mechanisms of action
TL;DR: Data support the hypothesis that Akirins act as a “bridge” between a variety of transcription factors and major chromatin remodeling complexes, and discuss several important questions remaining to be addressed.
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CRISPR-engineered genome editing for the next generation neurological disease modeling.
TL;DR: Recent progress of CRISPR‐based brain disease modeling studies are reviewed and future requirement to tackle current difficulties in usage of these technologies are discussed.
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Strength of functional signature correlates with effect size in autism.
Sara Ballouz,Jesse Gillis +1 more
TL;DR: A convergent functional signal is seen for a subset of known and novel functions in ASD from all sources of genetic variation, and meta-analytic approaches explicitly accounting for different study designs can be adapted to other diseases to discover novel functional associations and increase statistical power.
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