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
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Differential epigenetic effects of chlorpyrifos and arsenic in proliferating and differentiating human neural progenitor cells.
Hee Yeon Kim,Susanna Wegner,Kirk P. Van Ness,Julie Juyoung Park,Sara E. Pacheco,Tomomi Workman,Sungwoo Hong,William C. Griffith,Elaine M. Faustman +8 more
TL;DR: In this paper, the authors investigated the importance of timing of neurotoxicant exposure for perturbation of epigenetic regulation, exposing human neuronal progenitor cells (hNPCs) to chlorpyrifos (CP) and sodium arsenite (As; positive control) during proliferation and differentiation.
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The H3K4me3/2 histone demethylase RBR-2 controls axon guidance by repressing the actin-remodeling gene wsp-1
TL;DR: It is shown that RBR-2, the sole homolog of the KDM5 family of H3K4me3/2 demethylases in Caenorhabditis elegans, ensures correct axon guidance by controlling the expression of the actin regulator wsp-1.
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Mechanistic Insights Into MicroRNA-Induced Neuronal Reprogramming of Human Adult Fibroblasts.
Ya-Lin Lu,Andrew S. Yoo +1 more
TL;DR: Technological insights by which neuronal miRNAs, in synergism with brain-region specific transcription factors, drive the conversion of human fibroblasts into clinically relevant subtypes of neurons are provided.
Journal ArticleDOI
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
M. Felicia Basilicata,Ange Line Bruel,Giuseppe Semplicio,Claudia Isabelle Keller Valsecchi,Tugce Aktas,Yannis Duffourd,Tobias Rumpf,Jenny Morton,Iben Bache,Iben Bache,Witold G. Szymanski,Christian Gilissen,Olivier Vanakker,Katrin Õunap,Gerhard Mittler,Ineke van der Burgt,Salima El Chehadeh,Megan T. Cho,Rolph Pfundt,Tiong Yang Tan,Maria Kirchhoff,Björn Menten,Sarah Vergult,Kristin Lindstrom,André Reis,Diana Johnson,Alan Fryer,Victoria McKay,Richard Fisher,Christel Thauvin-Robinet,David Francis,Tony Roscioli,Tony Roscioli,Tony Roscioli,Sander Pajusalu,Kelly Radtke,Jaya Ganesh,Han G. Brunner,Han G. Brunner,Meredith Wilson,Laurence Faivre,Vera M. Kalscheuer,Julien Thevenon,Julien Thevenon,Asifa Akhtar +44 more
TL;DR: In this article, the authors report pathogenic variations in MSL3, which encodes a member of the chromatin-associated male-specific lethal (MSL) complex responsible for bulk histone H4 lysine 16 acetylation (H4K16ac).
Journal ArticleDOI
Regulatory characterisation of the schizophrenia-associated CACNA1C proximal promoter and the potential role for the transcription factor EZH2 in schizophrenia aetiology
Kimberley Billingsley,Maurizio Manca,Olympia Gianfrancesco,David A. Collier,Helen Sharp,Vivien J. Bubb,John P. Quinn +6 more
TL;DR: It is proposed that EZH2 may contribute to schizophrenia risk at two distinct time points either through disruption in development leading to neurodevelopmental changes, or through anomalous reactivation of expression in the adult brain.
References
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