• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

在控制基线差异后,MECP2 综合征中长基因失调的明显偏向消失了。

Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations.

机构信息

Graduate Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, 77030, USA.

Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, 77030, USA.

出版信息

Nat Commun. 2018 Aug 13;9(1):3225. doi: 10.1038/s41467-018-05627-1.

DOI:10.1038/s41467-018-05627-1
PMID:30104565
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6089998/
Abstract

Recent studies have suggested that genes longer than 100 kb are more likely to be misregulated in neurological diseases associated with synaptic dysfunction, such as autism and Rett syndrome. These length-dependent transcriptional changes are modest in MeCP2-mutant samples, but, given the low sensitivity of high-throughput transcriptome profiling technology, here we re-evaluate the statistical significance of these results. We find that the apparent length-dependent trends previously observed in MeCP2 microarray and RNA-sequencing datasets disappear after estimating baseline variability from randomized control samples. This is particularly true for genes with low fold changes. We find no bias with NanoString technology, so this long gene bias seems to be particular to polymerase chain reaction amplification-based platforms. In contrast, authentic long gene effects, such as those caused by topoisomerase inhibition, can be detected even after adjustment for baseline variability. We conclude that accurate characterization of length-dependent (or other) trends requires establishing a baseline from randomized control samples.

摘要

最近的研究表明,在与突触功能障碍相关的神经疾病(如自闭症和雷特综合征)中,超过 100kb 的基因更有可能被错误调控。这些长度依赖性的转录变化在 MeCP2 突变样本中是适度的,但由于高通量转录组分析技术的灵敏度较低,我们在这里重新评估了这些结果的统计学意义。我们发现,在 MeCP2 微阵列和 RNA 测序数据集之前观察到的明显的长度依赖性趋势,在从随机对照样本中估计基线变异性后消失了。对于 fold change 较低的基因尤其如此。我们在 NanoString 技术中没有发现偏差,因此这种长基因偏差似乎是特定于基于聚合酶链反应扩增的平台。相比之下,即使在调整了基线变异性后,真正的长基因效应(如拓扑异构酶抑制引起的效应)仍然可以被检测到。我们得出的结论是,准确描述长度依赖性(或其他)趋势需要从随机对照样本中建立基线。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/91113ea6947a/41467_2018_5627_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/da173d0d676a/41467_2018_5627_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/323854ee1082/41467_2018_5627_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/de838e199069/41467_2018_5627_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/e3931ac5b510/41467_2018_5627_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/91113ea6947a/41467_2018_5627_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/da173d0d676a/41467_2018_5627_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/323854ee1082/41467_2018_5627_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/de838e199069/41467_2018_5627_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/e3931ac5b510/41467_2018_5627_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65ea/6089998/91113ea6947a/41467_2018_5627_Fig5_HTML.jpg

相似文献

1
Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations.在控制基线差异后,MECP2 综合征中长基因失调的明显偏向消失了。
Nat Commun. 2018 Aug 13;9(1):3225. doi: 10.1038/s41467-018-05627-1.
2
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.雷特综合征小鼠模型的小脑基因表达谱揭示了新的MeCP2靶点。
BMC Med Genet. 2007 Jun 20;8:36. doi: 10.1186/1471-2350-8-36.
3
Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.来自瑞特综合征Mecp2(308)截短型小鼠模型的星形胶质细胞转录组
Neuromolecular Med. 2015 Dec;17(4):353-63. doi: 10.1007/s12017-015-8363-9. Epub 2015 Jul 25.
4
Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.雷特综合征中DNA甲基化依赖性长基因抑制的破坏。
Nature. 2015 Jun 4;522(7554):89-93. doi: 10.1038/nature14319. Epub 2015 Mar 11.
5
MeCP2 dysfunction in Rett syndrome and related disorders.雷特综合征及相关疾病中的MeCP2功能障碍。
Curr Opin Genet Dev. 2006 Jun;16(3):276-81. doi: 10.1016/j.gde.2006.04.009. Epub 2006 May 2.
6
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients.雷特综合征患者克隆淋巴细胞培养物的表达谱分析。
BMC Med Genet. 2006 Jul 21;7:61. doi: 10.1186/1471-2350-7-61.
7
DNA methylation in the gene body influences MeCP2-mediated gene repression.基因体内的DNA甲基化影响MeCP2介导的基因抑制。
Proc Natl Acad Sci U S A. 2016 Dec 27;113(52):15114-15119. doi: 10.1073/pnas.1618737114. Epub 2016 Dec 13.
8
MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein?雷特综合征中的MeCP2:转录抑制因子还是染色质结构蛋白?
Curr Opin Genet Dev. 2007 Apr;17(2):121-5. doi: 10.1016/j.gde.2007.02.003. Epub 2007 Feb 20.
9
MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome.随着神经元成熟,MeCP2与非CG甲基化DNA结合,影响转录以及雷特综合征的发病时间。
Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5509-14. doi: 10.1073/pnas.1505909112. Epub 2015 Apr 13.
10
Effects of Mecp2 loss of function in embryonic cortical neurons: a bioinformatics strategy to sort out non-neuronal cells variability from transcriptome profiling.胚胎皮质神经元中Mecp2功能丧失的影响:一种从转录组分析中梳理非神经元细胞变异性的生物信息学策略。
BMC Bioinformatics. 2016 Jan 20;17 Suppl 2(Suppl 2):14. doi: 10.1186/s12859-015-0859-7.

引用本文的文献

1
A transcriptome-based human universal senescence index (hUSI) robustly predicts cellular senescence under various conditions.一种基于转录组的人类通用衰老指数(hUSI)能够在各种条件下可靠地预测细胞衰老。
Nat Aging. 2025 May 29. doi: 10.1038/s43587-025-00886-2.
2
Exploring the complexity of MECP2 function in Rett syndrome.探索雷特综合征中MECP2功能的复杂性。
Nat Rev Neurosci. 2025 May 13. doi: 10.1038/s41583-025-00926-1.
3
Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome.雷特综合征人类和小鼠模型中的综合基因表达与可变剪接分析。

本文引用的文献

1
Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence.MECP2 缺失导致 p53 激活和神经元衰老。
Stem Cell Reports. 2018 May 8;10(5):1453-1463. doi: 10.1016/j.stemcr.2018.04.001.
2
Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.小鼠中MeCP2的生物素标记揭示了对雷特综合征转录组的背景见解。
Nat Med. 2017 Oct;23(10):1203-1214. doi: 10.1038/nm.4406. Epub 2017 Sep 18.
3
DNA methylation in the gene body influences MeCP2-mediated gene repression.基因体内的DNA甲基化影响MeCP2介导的基因抑制。
Sci Rep. 2025 Jan 22;15(1):2778. doi: 10.1038/s41598-025-86114-8.
4
Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis.成年小鼠中急性MeCP2缺失揭示了神经功能障碍之前的转录和染色质变化,并为发病机制提供了线索。
Neuron. 2025 Feb 5;113(3):380-395.e8. doi: 10.1016/j.neuron.2024.11.006. Epub 2024 Dec 16.
5
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.在 MECP2 重复综合征人类 iPSC 衍生神经元中模拟反义寡核苷酸治疗揭示了对 MeCP2 水平有反应的基因表达程序。
Hum Mol Genet. 2024 Nov 8;33(22):1986-2001. doi: 10.1093/hmg/ddae135.
6
Repeated birth injuries lead to long-term pelvic floor muscle dysfunction in the preclinical rat model.在临床前大鼠模型中,反复的分娩损伤会导致长期盆底肌肉功能障碍。
Am J Obstet Gynecol. 2025 Feb;232(2):198.e1-198.e23. doi: 10.1016/j.ajog.2024.08.036. Epub 2024 Aug 25.
7
Proregenerative extracellular matrix hydrogel mitigates pathological alterations of pelvic skeletal muscles after birth injury.促再生细胞外基质水凝胶减轻出生损伤后骨盆骨骼肌的病理性改变。
Sci Transl Med. 2023 Aug 2;15(707):eabj3138. doi: 10.1126/scitranslmed.abj3138.
8
MeCP2 regulates , a dosage-sensitive gene critical for neurological function.MECP2 调控, 一个对神经功能至关重要的剂量敏感基因。
Elife. 2023 Feb 27;12:e83806. doi: 10.7554/eLife.83806.
9
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.雷特综合征人类和动物模型中脑脊液蛋白质组与代谢本体的趋同
iScience. 2022 Aug 17;25(9):104966. doi: 10.1016/j.isci.2022.104966. eCollection 2022 Sep 16.
10
MeCP2 loss-of-function dysregulates microRNAs regionally and disrupts excitatory/inhibitory synaptic transmission balance.MeCP2 功能丧失会导致 microRNAs 区域失调,并破坏兴奋性/抑制性突触传递平衡。
Hippocampus. 2022 Aug;32(8):610-623. doi: 10.1002/hipo.23455. Epub 2022 Jul 19.
Proc Natl Acad Sci U S A. 2016 Dec 27;113(52):15114-15119. doi: 10.1073/pnas.1618737114. Epub 2016 Dec 13.
4
Transcriptome analysis of human brain tissue identifies reduced expression of complement complex C1Q Genes in Rett syndrome.人类脑组织的转录组分析表明,雷特综合征中补体复合物C1Q基因的表达降低。
BMC Genomics. 2016 Jun 6;17:427. doi: 10.1186/s12864-016-2746-7.
5
Topoisomerase 1 Regulates Gene Expression in Neurons through Cleavage Complex-Dependent and -Independent Mechanisms.拓扑异构酶1通过依赖切割复合物和不依赖切割复合物的机制调节神经元中的基因表达。
PLoS One. 2016 May 27;11(5):e0156439. doi: 10.1371/journal.pone.0156439. eCollection 2016.
6
Rett Syndrome: Crossing the Threshold to Clinical Translation.雷特综合征:迈向临床转化的关键一步。
Trends Neurosci. 2016 Feb;39(2):100-113. doi: 10.1016/j.tins.2015.12.008.
7
Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice.减少异常的NF-κB信号传导可改善Mecp2基因敲除小鼠的雷特综合征表型。
Nat Commun. 2016 Jan 29;7:10520. doi: 10.1038/ncomms10520.
8
Autism-like syndrome is induced by pharmacological suppression of BET proteins in young mice.在幼鼠中,通过药物抑制BET蛋白可诱发自闭症样综合征。
J Exp Med. 2015 Oct 19;212(11):1771-81. doi: 10.1084/jem.20151271. Epub 2015 Sep 21.
9
Errors in RNA-Seq quantification affect genes of relevance to human disease.RNA测序定量中的误差会影响与人类疾病相关的基因。
Genome Biol. 2015 Sep 3;16(1):177. doi: 10.1186/s13059-015-0734-x.
10
Gene length matters in neurons.基因长度在神经元中很重要。
Neuron. 2015 Apr 22;86(2):353-5. doi: 10.1016/j.neuron.2015.03.059.