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ASMdb:一个用于多种生物中等位基因特异性 DNA 甲基化的综合数据库。

ASMdb: a comprehensive database for allele-specific DNA methylation in diverse organisms.

机构信息

National Key Laboratory of Crop Genetic Improvement, Hubei Hongshan Laboratory, Huazhong Agricultural University, Wuhan 430070, China.

Agricultural Bioinformatics Key Laboratory of Hubei Province, Hubei Engineering Technology Research Center of Agricultural Big Data, 3D Genomics Research Center, College of Informatics, Huazhong Agricultural University, Wuhan 430070, China.

出版信息

Nucleic Acids Res. 2022 Jan 7;50(D1):D60-D71. doi: 10.1093/nar/gkab937.

Abstract

DNA methylation is known to be the most stable epigenetic modification and has been extensively studied in relation to cell differentiation, development, X chromosome inactivation and disease. Allele-specific DNA methylation (ASM) is a well-established mechanism for genomic imprinting and regulates imprinted gene expression. Previous studies have confirmed that certain special regions with ASM are susceptible and closely related to human carcinogenesis and plant development. In addition, recent studies have proven ASM to be an effective tumour marker. However, research on the functions of ASM in diseases and development is still extremely scarce. Here, we collected 4400 BS-Seq datasets and 1598 corresponding RNA-Seq datasets from 47 species, including human and mouse, to establish a comprehensive ASM database. We obtained the data on DNA methylation level, ASM and allele-specific expressed genes (ASEGs) and further analysed the ASM/ASEG distribution patterns of these species. In-depth ASM distribution analysis and differential methylation analysis conducted in nine cancer types showed results consistent with the reported changes in ASM in key tumour genes and revealed several potential ASM tumour-related genes. Finally, integrating these results, we constructed the first well-resourced and comprehensive ASM database for 47 species (ASMdb, www.dna-asmdb.com).

摘要

DNA 甲基化是最稳定的表观遗传修饰之一,已广泛研究于细胞分化、发育、X 染色体失活和疾病等方面。等位基因特异性 DNA 甲基化(ASM)是基因组印迹的一种既定机制,调节印迹基因的表达。先前的研究已经证实,具有 ASM 的某些特殊区域易受影响,与人类致癌和植物发育密切相关。此外,最近的研究证明 ASM 是一种有效的肿瘤标志物。然而,关于 ASM 在疾病和发育中的功能的研究仍然非常稀缺。在这里,我们从 47 个物种(包括人类和小鼠)中收集了 4400 个 BS-Seq 数据集和 1598 个相应的 RNA-Seq 数据集,建立了一个全面的 ASM 数据库。我们获得了 DNA 甲基化水平、ASM 和等位基因特异性表达基因(ASEGs)的数据,并进一步分析了这些物种的 ASM/ASEG 分布模式。在 9 种癌症类型中进行的深入 ASM 分布分析和差异甲基化分析结果与报告的关键肿瘤基因中的 ASM 变化一致,并揭示了几个潜在的与 ASM 相关的肿瘤基因。最后,我们整合这些结果,为 47 个物种构建了第一个资源丰富且全面的 ASM 数据库(ASMdb,www.dna-asmdb.com)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1995/8728259/fed4969399d2/gkab937fig1.jpg

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