Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures

ASH1L haploinsufficiency is strongly linked to autism, despite the unknown mechanism. Here, the authors show that ASH1L deficiency in prefrontal cortex causes the downregulation of synaptic genes, leading to seizures, which is rescued by chemogenetic and pharmacological restoration of excitation/inh...

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Main Authors: Luye Qin, Jamal B. Williams, Tao Tan, Tiaotiao Liu, Qing Cao, Kaijie Ma, Zhen Yan
Format: Article
Language:English
Published: Nature Portfolio 2021-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-26972-8
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author Luye Qin
Jamal B. Williams
Tao Tan
Tiaotiao Liu
Qing Cao
Kaijie Ma
Zhen Yan
author_facet Luye Qin
Jamal B. Williams
Tao Tan
Tiaotiao Liu
Qing Cao
Kaijie Ma
Zhen Yan
author_sort Luye Qin
collection DOAJ
description ASH1L haploinsufficiency is strongly linked to autism, despite the unknown mechanism. Here, the authors show that ASH1L deficiency in prefrontal cortex causes the downregulation of synaptic genes, leading to seizures, which is rescued by chemogenetic and pharmacological restoration of excitation/inhibition balance.
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spelling doaj.art-9cf490f4547141f4a572a7d190a6884a2022-12-21T19:22:46ZengNature PortfolioNature Communications2041-17232021-11-0112111410.1038/s41467-021-26972-8Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizuresLuye Qin0Jamal B. Williams1Tao Tan2Tiaotiao Liu3Qing Cao4Kaijie Ma5Zhen Yan6Department of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical SciencesDepartment of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical SciencesDepartment of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical SciencesDepartment of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical SciencesDepartment of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical SciencesDepartment of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical SciencesDepartment of Physiology and Biophysics, State University of New York at Buffalo, Jacobs School of Medicine and Biomedical SciencesASH1L haploinsufficiency is strongly linked to autism, despite the unknown mechanism. Here, the authors show that ASH1L deficiency in prefrontal cortex causes the downregulation of synaptic genes, leading to seizures, which is rescued by chemogenetic and pharmacological restoration of excitation/inhibition balance.https://doi.org/10.1038/s41467-021-26972-8
spellingShingle Luye Qin
Jamal B. Williams
Tao Tan
Tiaotiao Liu
Qing Cao
Kaijie Ma
Zhen Yan
Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
Nature Communications
title Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
title_full Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
title_fullStr Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
title_full_unstemmed Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
title_short Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
title_sort deficiency of autism risk factor ash1l in prefrontal cortex induces epigenetic aberrations and seizures
url https://doi.org/10.1038/s41467-021-26972-8
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