Journal
NATURE REVIEWS NEUROSCIENCE
Volume 17, Issue 7, Pages 411-423Publisher
NATURE PORTFOLIO
DOI: 10.1038/nrn.2016.41
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Funding
- US National Institute of Neurological Disorders and Stroke [R01NS081913, R01NS076263]
- US National Institute of Environmental Health Sciences [R01ES021707]
- US Department of Defense [W81XWH- 12- 1 -0491]
- US National Institute of Mental Health [T32MH073124-06]
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Increasing evidence points to a complex interplay between genes and the environment in autism spectrum disorder (ASD), including rare de novo mutations in chromatin genes such as methyl-CpG binding protein 2 (MECP2) in Rett syndrome. Epigenetic mechanisms such as DNA methylation act at this interface, reflecting the plasticity in metabolic and neurodevelopmentally regulated gene pathways. Genome-wide studies of gene sequences, gene pathways and DNA methylation are providing valuable mechanistic insights into ASD. The dynamic developmental landscape of DNA methylation is vulnerable to numerous genetic and environmental insults: therefore, understanding pathways that are central to this 'perfect storm' will be crucial to improving the diagnosis and treatment of ASD.
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