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Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders
Author(s) -
Zhang Cheng,
Xu Lulu,
Zheng Xueping,
Liu Shiguo,
Che Fengyuan
Publication year - 2020
Publication title -
developmental neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.716
H-Index - 129
eISSN - 1932-846X
pISSN - 1932-8451
DOI - 10.1002/dneu.22795
Subject(s) - biology , neuroscience , epigenetics , pleiotropy , intellectual disability , neuropathology , autism spectrum disorder , neurodevelopmental disorder , chromatin remodeling , autism , genetics , psychology , phenotype , gene , medicine , disease , psychiatry , pathology
Ash1l potentially contributes to neurodevelopmental diseases. Although specific Ash1l mutations are rare, they have led to informative studies in animal models that may bring therapeutic advances. Ash1l is highly expressed in the brain and correlates with the neuropathology of Tourette syndrome (TS), autism spectrum disorder, and intellectual disability during development, implicating shared epigenetic factors and overlapping neuropathological mechanisms. Functional convergence of Ash1l generated several significant signaling pathways: chromatin remodeling and transcriptional regulation, protein synthesis and cellular metabolism, and synapse development and function. Here, we systematically review the literature on Ash1l , including its discovery, expression, function, regulation, implication in the nervous system, signaling pathway, mutations, and putative involvement in TS and other neurodevelopmental traits. Such findings highlight Ash1l pleiotropy and the necessity of transcending a single gene to complicated mechanisms of network convergence underlying these diseases. With the progress in functional genomic analysis (highlighted in this review), and although the importance and necessity of Ash1l becomes increasingly apparent in the medical field, further research is required to discover the precise function and molecular regulatory mechanisms related to Ash1l . Thus, a new perspective is proposed for basic scientific research and clinical interventions for cross‐disorder diseases.