Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
复制标题
作者更正：超深度全基因组测序揭示了自闭症和神经正常个体大脑皮层体细胞突变的情况。
DOI：
10.1038/s41593-023-01437-x
复制
发表时间：
2023
影响因子：
25
通讯作者：
Park,P
中科院分区：
文献类型：
--
作者：
Rodin,RachelE;Dou,Yanmei;Kwon,Minseok;Sherman,MaxwellA;D'Gama,AlissaM;Doan,RyanN;Rento,LarizaM;Girskis,KellyM;Bohrson,CraigL;Kim,SoniaN;Nadig,Ajay;Luquette,LovelaceJ;Gulhan,DogaC;BrainSomaticMosaicismNetwork;Park,P
由RE Rodin， Y. Dou， M. Kwon, MA Sherman, AM D'Gama, RN Doan, LM Rento, KM Girskis, CL Bohrson, SN Kim， A. Nadig, LJ Luquette, DC Gulhan， PJ Park和CA Walsh发表的“通过超深度全基因组测序揭示的自闭症和神经正常个体大脑皮层体细胞突变的情况”报告中的错误（自然神经科学，2021 [2],Vol 24 b[2], 176-185）。在最初发表的文章版本中，Eric Courchesne被错误地列为大脑躯体镶嵌网络（Brain Somatic Mosaicism Network）的贡献成员。本文的HTML和PDF版本对此进行了修改。（原文摘要见记录2021-14184-005）[更正通知：本文的勘误报告于Nature Neuroscience Vol 24(4)（见record 2021-33038-019）。]在本文最初发布的版本中，在方法部分的第二句中有一个错误。更正后的句子附在勘误表中。该错误已在本文的PDF和HTML版本中得到纠正。我们通过对59名自闭症谱系障碍（ASD）供体和15名对照供体的前额皮质进行超深度（~ 250x）全基因组测序，描绘了受精后发生的人类大脑体细胞突变的景象。我们观察到，在≥4%的细胞中，每个大脑中平均存在26个体细胞单核苷酸变异，在编码区和假定的调节区富集突变。我们的分析表明，受精后的第一次细胞分裂产生约3.4个突变，随后在后代中产生2-3个突变。这表明，一个典型的个体在≥2%的细胞中拥有约80个体细胞单核苷酸变异——相当于每代新生生殖系突变的数量——大约一半的个体在皮层的某个地方至少有一个可能改变功能的体细胞突变。与对照组相比，ASD大脑中神经增强子序列的体细胞突变过多，这表明马赛克增强子突变可能导致ASD风险。（PsycInfo数据库记录(c) 2023 APA，版权所有）
Reports an error in" The Landscape of Somatic Mutation in Cerebral Cortex of Autistic and Neurotypical Individuals Revealed by Ultra-Deep Whole-Genome Sequencing" by RE Rodin, Y. Dou, M. Kwon, MA Sherman, AM D'Gama, RN Doan, LM Rento, KM Girskis, CL Bohrson, SN Kim, A. Nadig, LJ Luquette, DC Gulhan, PJ Park and CA Walsh (Nature Neuroscience, 2021 [Feb], Vol 24 [2], 176-185). In the version of the article originally published, Eric Courchesne was incorrectly listed as a contributing member of the Brain Somatic Mosaicism Network. This has been amended in the HTML and PDF versions of the article.(The following abstract of the original article appeared in record 2021-14184-005).[Correction Notice: An Erratum for this article was reported in Vol 24 (4) of Nature Neuroscience (see record 2021-33038-019). In the version of this article originally published, there was an error in the second sentence of the Methods section. The corrected sentence is provided in the erratum. The error has been corrected in the PDF and HTML versions of this article.] We characterize the landscape of somatic mutations—mutations occurring after fertilization—in the human brain using ultra-deep (~ 250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors. We observe a mean of 26 somatic single-nucleotide variants per brain present in≥ 4% of cells, with enrichment of mutations in coding and putative regulatory regions. Our analysis reveals that the first cell division after fertilization produces~ 3.4 mutations, followed by 2–3 mutations in subsequent generations. This suggests that a typical individual possesses~ 80 somatic single-nucleotide variants present in≥ 2% of cells—comparable to the number of de novo germline mutations per generation—with about half of individuals having at least one potentially function-altering somatic mutation somewhere in the cortex. ASD brains show an excess of somatic mutations in neural enhancer sequences compared with controls, suggesting that mosaic enhancer mutations may contribute to ASD risk.(PsycInfo Database Record (c) 2023 APA, all rights reserved)