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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Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
Cemre Celen,Jen Chieh Chuang,Xin Luo,Nadine Nijem,Angela K. Walker,Fei Chen,Shuyuan Zhang,Andrew S. Chung,Liem H. Nguyen,Ibrahim Nassour,Albert Budhipramono,Xuxu Sun,Levinus A. Bok,Meriel McEntagart,Evelien F. Gevers,Shari G. Birnbaum,Amelia J. Eisch,Craig M. Powell,Woo Ping Ge,Gijs W. E. Santen,Maria H. Chahrour,Hao Zhu +21 more
TL;DR: A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients, and Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness.
Journal ArticleDOI
The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation
Zhi-Yan Han,Wilfrid Richer,Paul Fréneaux,Céline Chauvin,Carlo Lucchesi,Delphine Guillemot,Camille Grison,Delphine Lequin,Gaëlle Pierron,Julien Masliah-Planchon,André Nicolas,Dominique Ranchère-Vince,Pascale Varlet,Stéphanie Puget,Isabelle Janoueix-Lerosey,Olivier Ayrault,Didier Surdez,Olivier Delattre,Franck Bourdeaut +18 more
TL;DR: These tumours demonstrate anatomical, morphological and gene expression profiles consistent with those of human AT/RTs and reveal that human and mouse RTs can be split into different entities that may underline the variety of RT cells of origin.
Journal ArticleDOI
Further delineation of the SATB2 phenotype
Dennis Döcker,Max Schubach,M. Menzel,Marita Munz,Christiane Spaich,Saskia Biskup,Deborah Bartholdi +6 more
TL;DR: A new clinically recognizable syndrome is proposed – the SATB2-associated syndrome (SAS) which is likely to be underdiagnosed and should be considered in children with ID, severe speech delay, cleft or high-arched palate and abnormal dentition with crowded and irregularly shaped teeth.
Journal ArticleDOI
The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes.
TL;DR: A conceptual investigation of chromatin dysfunction in NDDs is undertaken with the aim of systematizing the available evidence in a new framework and teasing out the developmental vulnerabilities in human corticogenesis as a structuring entry point into the causation of N DDs.
Journal ArticleDOI
ACF chromatin-remodeling complex mediates stress-induced depressive-like behavior
HaoSheng Sun,Diane M. Damez-Werno,Kimberly N. Scobie,Ning-Yi Shao,Caroline Dias,Jacqui Rabkin,Ja Wook Koo,Erica Korb,Rosemary C. Bagot,Francisca H. Ahn,Michael E. Cahill,Benoit Labonté,Ezekiell Mouzon,Elizabeth A. Heller,Hannah M. Cates,Sam A. Golden,Kelly Gleason,Scott J. Russo,Simon Andrews,Rachael L. Neve,Pamela J. Kennedy,Ian Maze,David M. Dietz,C. David Allis,Gustavo Turecki,Patrick Varga-Weisz,Carol A. Tamminga,Li Shen,Eric J. Nestler +28 more
TL;DR: It is established that persistent upregulation of the ACF (ATP-utilizing chromatin assembly and remodeling factor) ATP-dependent chromatin-remodeling complex, occurring in the nucleus accumbens of stress-susceptible mice and depressed humans, is necessary for stress-induced depressive-like behaviors.
References
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
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