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DNA Methylation and Susceptibility to Autism Spectrum Disorder.
Annual Review of Medicine ( IF 10.5 ) Pub Date : 2019-01-27 , DOI: 10.1146/annurev-med-120417-091431
Martine W Tremblay 1 , Yong-Hui Jiang 1, 2
Affiliation  

The prevalence of autism spectrum disorder (ASD) has been increasing steadily over the last 20 years; however, the molecular basis for the majority of ASD cases remains unknown. Recent advances in next-generation sequencing and detection of DNA modifications have made methylation-dependent regulation of transcription an attractive hypothesis for being a causative factor in ASD etiology. Evidence for abnormal DNA methylation in ASD can be seen on multiple levels, from genetic mutations in epigenetic machinery to loci-specific and genome-wide changes in DNA methylation. Epimutations in DNA methylation can be acquired throughout life, as global DNA methylation reprogramming is dynamic during embryonic development and the early postnatal period that corresponds to the peak time of synaptogenesis. However, technical advances and causative evidence still need to be established before abnormal DNA methylation and ASD can be confidently associated.

中文翻译:

DNA甲基化和自闭症谱系易感性。

在过去的20年中,自闭症谱系障碍(ASD)的患病率一直在稳步增长;然而,大多数ASD病例的分子基础仍然未知。下一代测序和DNA修饰检测的最新进展已使依赖于甲基化的转录调控成为ASD病因的诱因。从表观遗传机制中的基因突变到基因座特异性和基因组范围内的DNA甲基化变化,可以从多个层面看到ASD中DNA甲基化异常的证据。DNA甲基化的突变可以终生获得,因为总体DNA甲基化重编程在胚胎发育过程中和出生后早期(对应于突触形成的高峰时间)是动态的。然而,
更新日期:2019-01-28
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