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- 저자 : de la Torre-Ubieta, Luis (검색결과 2 건)
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Advancing the understanding of autism disease mechanisms through genetics
de la Torre-Ubieta, Luis,Won, Hyejung,Stein, Jason L,Geschwind, Daniel H Nature Publishing Group, a division of Macmillan P 2016 Nature medicine Vol.22 No.4
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has fueled remarkable advances in our understanding of its potential neurobiological mechanisms. Yet, at the same time, these findings highlight extraordinary causal diversity and complexity at many levels ranging from molecules to circuits and emphasize the gaps in our current knowledge. Here we review current understanding of the genetic architecture of ASD and integrate genetic evidence, neuropathology and studies in model systems with how they inform mechanistic models of ASD pathophysiology. Despite the challenges, these advances provide a solid foundation for the development of rational, targeted molecular therapies.
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Chromosome conformation elucidates regulatory relationships in developing human brain
Won, Hyejung,de la Torre-Ubieta, Luis,Stein, Jason L.,Parikshak, Neelroop N.,Huang, Jerry,Opland, Carli K.,Gandal, Michael J.,Sutton, Gavin J.,Hormozdiari, Farhad,Lu, Daning,Lee, Changhoon,Eskin, Elea Nature Publishing Group 2016 Nature Vol. No.
Three-dimensional physical interactions within chromosomes dynamically regulate gene expression in a tissue-specific manner. However, the 3D organization of chromosomes during human brain development and its role in regulating gene networks dysregulated in neurodevelopmental disorders, such as autism or schizophrenia, are unknown. Here we generate high-resolution 3D maps of chromatin contacts during human corticogenesis, permitting large-scale annotation of previously uncharacterized regulatory relationships relevant to the evolution of human cognition and disease. Our analyses identify hundreds of genes that physically interact with enhancers gained on the human lineage, many of which are under purifying selection and associated with human cognitive function. We integrate chromatin contacts with non-coding variants identified in schizophrenia genome-wide association studies (GWAS), highlighting multiple candidate schizophrenia risk genes and pathways, including transcription factors involved in neurogenesis, and cholinergic signalling molecules, several of which are supported by independent expression quantitative trait loci and gene expression analyses. Genome editing in human neural progenitors suggests that one of these distal schizophrenia GWAS loci regulates FOXG1 expression, supporting its potential role as a schizophrenia risk gene. This work provides a framework for understanding the effect of non-coding regulatory elements on human brain development and the evolution of cognition, and highlights novel mechanisms underlying neuropsychiatric disorders.
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