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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Modeling Suggests Combined-Drug Treatments for Disorders Impairing Synaptic Plasticity via Shared Signaling Pathways
TL;DR: In this paper, drug effects within a computational model describing induction of late long-term potentiation (L-LTP) were simulated for Rubinstein-Taybi syndrome (RTS) and Coffin-Lowry syndrome (CLS).
Dissertation
Loss of BAF155 impairs neurogenesis in the developing olfactory system of mice
TL;DR: Light is shed on the role of the scaffolding subunit BAF155 in the development of the olfactory system of mice and on the processing of oNSCs into sustentacular cells and why this developmental path-way is not affected by a loss of BAF 155.
Book ChapterDOI
Epigenetic Regulation of Neurogenesis by microRNAs
TL;DR: Direct conversion of a nonneuronal somatic cell to a functional neuron by brain-enriched miRNAs not only emphasizes the essential role of miRN as in neurogenesis, but also provides new strategies for modeling human neurodegenerative diseases and regenerative medicine.
Posted ContentDOI
Patterns of cancer somatic mutations predict genes involved in phenotypic abnormalities and genetic diseases
TL;DR: It is shown that high-throughput data about the frequency of somatic mutations in the most common cancers can be used to predict the genes involved in abnormal phenotypes and diseases and provide new insight into the common origin of cancer and genetic diseases.
References
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Journal ArticleDOI
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Thomas Jenuwein,C. David Allis +1 more
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Functions of DNA methylation: islands, start sites, gene bodies and beyond
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Ruthie E. Amir,Ignatia B. Van den Veyver,Mimi Wan,Charles Q. Tran,Uta Francke,Huda Y. Zoghbi +5 more
TL;DR: This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
Journal ArticleDOI
Genome-wide maps of chromatin state in pluripotent and lineage-committed cells
Tarjei S. Mikkelsen,Manching Ku,Manching Ku,David B. Jaffe,Biju Issac,Biju Issac,Erez Lieberman Aiden,Erez Lieberman Aiden,Georgia Giannoukos,Pablo Alvarez,William Brockman,Tae Kyung Kim,Richard Koche,Richard Koche,Richard Koche,William Lee,Eric M. Mendenhall,Eric M. Mendenhall,Aisling O'Donovan,Aviva Presser,Carsten Russ,Xiaohui Xie,Alexander Meissner,Marius Wernig,Rudolf Jaenisch,Chad Nusbaum,Eric S. Lander,Eric S. Lander,Bradley E. Bernstein,Bradley E. Bernstein +29 more
TL;DR: The application of single-molecule-based sequencing technology for high-throughput profiling of histone modifications in mammalian cells is reported and it is shown that chromatin state can be read in an allele-specific manner by using single nucleotide polymorphisms.
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