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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Automatic identification of informative regions with epigenomic changes associated to hematopoiesis.
Enrique Carrillo-de Santa Pau,David Juan,Pancaldi,Felipe Were,Ignacio Martin-Subero,Daniel Rico,Alfonso Valencia +6 more
TL;DR: A bioinformatic workflow to generate a chromatin space that allows to classify 42 human healthy blood epigenomes from the BLUEPRINT, NIH ROADMAP and ENCODE consortia by their cell type is developed, allowing to distinguish different cells types based on their epigenomic profiles, thus recapitulating important aspects of human hematopoiesis.
Journal ArticleDOI
Mice lacking the chromodomain helicase DNA-binding 5 chromatin remodeler display autism-like characteristics.
Marc T. Pisansky,A E Young,Michael B. O'Connor,Irving I. Gottesman,Anindya Bagchi,Jonathan C. Gewirtz +5 more
TL;DR: A novel mouse model resulting from brain-specific deletion of chromodomain helicase DNA-binding 5 (Chd5) produces a pattern of transcriptional, neuronal and behavioral effects consistent with the presentation of ASDs.
Journal ArticleDOI
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
Xiujuan Du,Xueren Gao,Xin Liu,Lixiao Shen,Kai Wang,Yanjie Fan,Yu Sun,Xiaomei Luo,Huili Liu,Lili Wang,Yu Wang,Zhuwen Gong,Jianguo Wang,Yongguo Yu,Fei Li +14 more
TL;DR: WES is an efficient diagnostic tool for diagnosed ASD especially those with negative findings of CNVs and other neurological disorders in clinical practice, enabling early identification of disease related genes and contributing to precision and personalized medicine.
Posted ContentDOI
Integrating healthcare and research genetic data empowers the discovery of 49 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,Elke de Boer,Petr Danecek,Eugene J. Gardner,Ni Huang,Jenny Lord,Jenny Lord,Inigo Martincorena,Rolph Pfundt,Margot R.F. Reijnders,Alison Yeung,Helger G. Yntema,Lisenka E.L.M. Vissers,Jane Juusola,Caroline F. Wright,Han G. Brunner,Han G. Brunner,Helen V. Firth,Helen V. Firth,David R. FitzPatrick,Jeffrey C. Barrett,Matthew E. Hurles,Christian Gilissen,Kyle Retterer +34 more
TL;DR: To identify novel DD-associated genes, integrated healthcare and research exome sequences on 31,058 DD parent-offspring trios, and developed a simulation-based statistical test to identify gene-specific enrichments of DNMs.
Journal ArticleDOI
Integrative network analysis reveals biological pathways associated with Williams syndrome.
Ryo Kimura,Vivek Swarup,Kiyotaka Tomiwa,Kiyotaka Tomiwa,Michael J. Gandal,Neelroop N. Parikshak,Yasuko Funabiki,Masatoshi Nakata,Tomonari Awaya,Takeo Kato,Kei Iida,Shin Okazaki,Kanae Matsushima,Toshihiro Kato,Toshiya Murai,Toshio Heike,Daniel H. Geschwind,Masatoshi Hagiwara +17 more
TL;DR: Dysregulation of the mRNA/miRNA network involving genes outside of the 7q11.23 region is likely related to the complex phenotypes observed in WS patients.
References
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