FMRP Control of Ribosome Translocation Promotes Chromatin Modifications and Alternative Splicing of Neuronal Genes Linked to Autism

Publication date: 31 March 2020Source: Cell Reports, Volume 30, Issue 13Author(s): Sneha Shah, Gemma Molinaro, Botao Liu, Ruijia Wang, Kimberly M. Huber, Joel D. Richter
Source: Cell Reports - Category: Cytology Source Type: research

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Contributor : Meiyan WangSeries Type : OtherOrganism : Homo sapiensThe association between macrocephaly and autism spectrum disorder (ASD)suggests that the mechanisms underlying excessive neural growth could contribute to ASD pathogenesis. Consistently, neural progenitor cells (NPCs) derived from induced pluripotent stem cells (iPSCs) of ASD individuals with early developmental brain enlargement are inherently more proliferative than control NPCs. Here, we show that hiPSC-derived NPCs from ASD individuals with macrocephaly display an altered DNA replication program and increased DNA damage. When compared to the control NPC...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
Contributor : Meiyan WangSeries Type : OtherOrganism : Homo sapiensThe association between macrocephaly and autism spectrum disorder (ASD)suggests that the mechanisms underlying excessive neural growth could contribute to ASD pathogenesis. Consistently, neural progenitor cells (NPCs) derived from induced pluripotent stem cells (iPSCs) of ASD individuals with early developmental brain enlargement are inherently more proliferative than control NPCs. Here, we show that hiPSC-derived NPCs from ASD individuals with macrocephaly display an altered DNA replication program and increased DNA damage. When compared to the control NPC...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
AUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder, intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very broad array of neuropsychiatric disorders, sugg esting that AUTS2 is required for fundamental steps of neurodevelopment. However, genotype-phenotype correlations in this region are complicated, because most mutations could also involve neighboring genes. Of particular interest is the nearest downstream neighbor of AUTS2, GALNT17, which encodes a brain-expressed N-acetylgal...
Source: G3: Genes Genomes Genetics - Category: Genetics & Stem Cells Authors: Tags: Investigations Source Type: research
Contributor : Lisa StubbsSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusAUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder (ASD), intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very broad array of neuropsychiatric disorders, suggesting that AUTS2 is required for fundamental steps of neurodevelopment. However, genotype-phenotype correlations in this region are complicated, because most mutations could also involve neighboring genes. Of ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Conclusion: The high rate of chromosomal abnormalities found in the Moroccan patients studied demonstrates the capital importance of cytogenetic evaluation in patients who show ID or any clinical development abnormality.Hum Hered 2017/2018;83:274 –282
Source: Human Heredity - Category: Genetics & Stem Cells Source Type: research
Conclusions: PGC1β regulates breast cancer tumor growth and metastasis by SREBP1-mediated HKDC1 expression. This provides a novel therapeutic strategy through targeting the PGC1β/HKDC1 signaling pathway for breast cancer treatment. Introduction Breast cancer is a very common cancer with significant premature mortality in women. Around 12% of women in USA will have chance to be diagnosed with breast cancer during their lifetimes (1, 2). The development of breast cancer is regulated by many factors, and even as average survival rates have increased significantly as a result of many advanced treatments, the ...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusion In Table 1, an overview is presented of the complex roles of AAs described in this review regarding the microbiome-gut-immune-brain axis in ASD. Besides behavioral deficits, people with ASD are characterized by systemic inflammation, gastrointestinal immune-related disturbances and changes in the gut microbiota composition. Moreover, differences in levels of specific AAs in various body compartments, including the intestinal tract, blood, urine and brain have been reported in patients with ASD, as well as in rodent models for ASD. This review described that specific AAs can modulate the intestinal epithelial im...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Does Prenatal Stress Shape Postnatal Resilience? – An Epigenome-Wide Study on Violence and Mental Health in Humans Fernanda Serpeloni1,2, Karl M. Radtke1,3, Tobias Hecker4, Johanna Sill1, Vanja Vukojevic5, Simone G. de Assis2, Maggie Schauer1, Thomas Elbert1 and Daniel Nätt6* 1Clinical Psychology and Neuropsychology, Department of Psychology, University of Konstanz, Konstanz, Germany 2Department of Studies in Violence and Health Jorge Careli, National School of Public Health of Rio de Janeiro – National Institute of Women, Children and Adolescents Health Fernandes Figueira, Oswaldo Cruz Foundation, ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We describe the children’s cognitive and behavioral phenotype (including autism spectrum disorder, moderate intellectual disability, and language disorder), discuss a possible genetic mechanism contributing to their comorbidities (i.e., 12p13 microdeletions), and revi ew other potential contributing factors to their presentation.
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research
Long noncoding RNAs (lncRNAs) have been shown to act as important cell biological regulators including cell fate decisions but are often ignored in human genetics. Combining differential lncRNA expression during neuronal lineage induction with copy number variation morbidity maps of a cohort of children with autism spectrum disorder/intellectual disability versus healthy controls revealed focal genomic mutations affecting several lncRNA candidate loci. Here we find that a t(5:12) chromosomal translocation in a family manifesting neurodevelopmental symptoms disrupts specificallylnc-NR2F1. We further show thatlnc-NR2F1 is an...
Source: eLife - Category: Biomedical Science Tags: Genetics and Genomics Stem Cells and Regenerative Medicine Source Type: research
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