Grupo de Medicina Xenómica, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidad de Santiago de Compostela, Santiago de Compostela, Spain.
Grupo de Medicina Xenómica, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidad de Santiago de Compostela, Santiago de Compostela, Spain; Grupo de Medicina Xenómica, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidad de Santiago de Compostela, Santiago de Compostela, Spain.
Eur J Med Genet. 2023 Jun;66(6):104752. doi: 10.1016/j.ejmg.2023.104752. Epub 2023 Apr 5.
Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. While ASD have been proven to have a strong genetic component, current research largely focuses on coding regions of the genome. However, non-coding DNA, which makes up for ∼99% of the human genome, has recently been recognized as an important contributor to the high heritability of ASD, and novel sequencing technologies have been a milestone in opening up new directions for the study of the gene regulatory networks embedded within the non-coding regions. Here, we summarize current progress on the contribution of non-coding alterations to the pathogenesis of ASD and provide an overview of existing methods allowing for the study of their functional relevance, discussing potential ways of unraveling ASD's "missing heritability".
自闭症谱系障碍 (ASD) 是一组神经发育障碍 (NDD)，其特征是社交互动和沟通困难、重复行为和兴趣受限。虽然 ASD 被证明具有很强的遗传成分，但目前的研究主要集中在基因组的编码区域。然而，占人类基因组约 99%的非编码 DNA 最近被认为是 ASD 高遗传性的一个重要贡献者，新型测序技术已经成为开启非编码区域内基因调控网络研究新方向的一个里程碑。在这里，我们总结了非编码改变对 ASD 发病机制的贡献的最新进展，并概述了现有的研究其功能相关性的方法，讨论了揭示 ASD“缺失遗传力”的潜在方法。
