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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Journal ArticleDOI
Replication-Independent Histone Variant H3.3 Controls Animal Lifespan through the Regulation of Pro-longevity Transcriptional Programs
TL;DR: It is concluded that H3.3 positively contributes to diverse lifespan-extending signaling pathways, with potential implications on age-related processes in multicellular organisms.
Journal ArticleDOI
The Chromodomain Helicase DNA-Binding Chromatin Remodelers: Family Traits that Protect from and Promote Cancer
TL;DR: This review highlights what is currently known about how genetic and epigenetic perturbation of CHD proteins and the pathways that they regulate set the stage for cancer, providing new insight for designing more effective anti-cancer therapies.
Journal ArticleDOI
The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression
Danielle E. Whittaker,Danielle E. Whittaker,Kimberley L. H. Riegman,Sahrunizam Kasah,Conor Mohan,Tian Yu,Blanca Pijuan Sala,Husam Hebaishi,Angela Caruso,Angela Caruso,Ana C. Marques,Caterina Michetti,Caterina Michetti,Maria Eugenia Sanz Smachetti,Apar Shah,Mara Sabbioni,Omer Kulhanci,Wee-Wei Tee,Danny Reinberg,Maria Luisa Scattoni,Holger A. Volk,Imelda M. McGonnell,Fiona C. Wardle,Cathy Fernandes,M. Albert Basson +24 more
TL;DR: This study shows that Reln gene expression is regulated by chromatin remodeling, identifies CHD7 as a previously unrecognized upstream regulator of Reln, and provides direct in vivo evidence that a mammalian CHD protein can control brain development by modulating chromatin accessibility in neuronal progenitors.
Book ChapterDOI
Epigenetic mechanisms in autism spectrum disorder.
TL;DR: Progress on studies designed to provide a better understanding of how epigenetic mechanisms impact transcriptional programs operative in the brain that contribute to ASD are reviewed.
Posted ContentDOI
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
Joanna Kaplanis,Kaitlin E. Samocha,Laurens Wiel,Zhancheng Zhang,Kevin J. Arvai,Ruth Y. Eberhardt,Giuseppe Gallone,Stefan H. Lelieveld,Hilary C. Martin,Jeremy F. McRae,Patrick J. Short,Rebecca I. Torene,de Boer E,Petr Danecek,Eugene J. Gardner,Ni Huang,Jenny Lord,Inigo Martincorena,R. Pfundt,Reijnders Mrf.,Alison Yeung,Helger G. Yntema,Deciphering Developmental Disorders Study,Vissers Lelm,Jane Juusola,Caroline F. Wright,Han G. Brunner,Helen V. Firth,David R. FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles,Christian Gilissen,Kyle Retterer +32 more
TL;DR: To identify novel DD-associated genes, healthcare and research exome sequences are integrated on 31,058 DD parent-offspring trios, and a simulation-based statistical test is developed to identify gene-specific enrichments of DNMs.
References
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