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本文引用的文献

1
MirSNP, a database of polymorphisms altering miRNA target sites, identifies miRNA-related SNPs in GWAS SNPs and eQTLs.MirSNP 是一个数据库,包含改变 miRNA 靶位点的多态性,用于鉴定 GWAS SNPs 和 eQTLs 中的 miRNA 相关 SNPs。
BMC Genomics. 2012 Nov 23;13:661. doi: 10.1186/1471-2164-13-661.
2
Genetic architecture of microRNA expression: implications for the transcriptome and complex traits.miRNA 表达的遗传结构:对转录组和复杂性状的影响。
Am J Hum Genet. 2012 Jun 8;90(6):1046-63. doi: 10.1016/j.ajhg.2012.04.023. Epub 2012 May 31.
3
Impact of microRNA regulation on variation in human gene expression.miRNA 调控对人类基因表达变异的影响。
Genome Res. 2012 Jul;22(7):1243-54. doi: 10.1101/gr.132514.111. Epub 2012 Mar 28.
4
miRNA-mediated relationships between Cis-SNP genotypes and transcript intensities in lymphocyte cell lines.miRNA 介导的顺式单核苷酸多态性基因型与淋巴细胞系转录本强度之间的关系。
PLoS One. 2012;7(2):e31429. doi: 10.1371/journal.pone.0031429. Epub 2012 Feb 14.
5
Catalog of microRNA seed polymorphisms in vertebrates.脊椎动物 microRNA 种子多态性目录。
PLoS One. 2012;7(1):e30737. doi: 10.1371/journal.pone.0030737. Epub 2012 Jan 27.
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miRdSNP: a database of disease-associated SNPs and microRNA target sites on 3'UTRs of human genes.miRdSNP:一个疾病相关 SNP 数据库和人类基因 3'UTR 上 microRNA 靶位。
BMC Genomics. 2012 Jan 25;13:44. doi: 10.1186/1471-2164-13-44.
7
The Influence of 3'UTRs on MicroRNA Function Inferred from Human SNP Data.从人类单核苷酸多态性数据推断3'非翻译区对微小RNA功能的影响
Comp Funct Genomics. 2011;2011:910769. doi: 10.1155/2011/910769. Epub 2011 Oct 25.
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PolymiRTS Database 2.0: linking polymorphisms in microRNA target sites with human diseases and complex traits.PolymiRTS 数据库 2.0:将 miRNA 靶位的多态性与人类疾病和复杂特征联系起来。
Nucleic Acids Res. 2012 Jan;40(Database issue):D216-21. doi: 10.1093/nar/gkr1026. Epub 2011 Nov 10.
9
Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis.全基因组鉴定 miRNA 基因中的 SNPs 及其对 miRNA 靶结合和生物发生的 SNP 效应。
Hum Mutat. 2012 Jan;33(1):254-63. doi: 10.1002/humu.21641. Epub 2011 Nov 23.
10
A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS.全基因组范围内对改变 microRNA 种子序列的 SNPs 的检测确定了 GWAS 中的功能候选物。
BMC Genomics. 2011 Oct 13;12:504. doi: 10.1186/1471-2164-12-504.

单核苷酸多态性与 miRNA 调控相关。

Single Nucleotide Polymorphisms Associated with MicroRNA Regulation.

机构信息

NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, Singapore 117456, Singapore.

出版信息

Biomolecules. 2013 Apr 9;3(2):287-302. doi: 10.3390/biom3020287.

DOI:10.3390/biom3020287
PMID:24970168
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4030849/
Abstract

Since the discovery of microRNA (miRNA), the polymorphisms that affect miRNA regulation had been extensively investigated by many independent studies. Recently, researchers utilized bioinformatics and statistical approaches for genome-wide analysis on the human polymorphisms that reside in the miRNA genes, targets, and/or genes involved in miRNA processing. In this review, we will give an overview about the important findings of these studies from three perspectives: architecture of the polymorphisms within miRNAs or their targets, potential functional consequences of the polymorphisms on miRNA processing or targeting, and the associations of the polymorphisms with miRNA or target gene expression. The results of the previous studies demonstrated the signatures of natural selections on the miRNA genes and their targets, and proposed a collection of potentially functional, expression-associated, and/or positively selected polymorphisms that are promising for further investigations. In the meantime, a few useful resources about the polymorphic miRNA regulation have been developed and the different features of these databases were discussed in this review. Though recent research had benefited from these comprehensive studies and resources, there were still gaps in our knowledge about the polymorphisms involved in miRNA regulation, and future investigations were expected to address these questions.

摘要

自从发现 microRNA(miRNA)以来,许多独立的研究已经广泛研究了影响 miRNA 调控的多态性。最近,研究人员利用生物信息学和统计学方法对位于 miRNA 基因、靶标和/或 miRNA 加工相关基因中的人类多态性进行了全基因组分析。在这篇综述中,我们将从三个方面概述这些研究的重要发现:miRNA 或其靶标内多态性的结构、多态性对 miRNA 加工或靶标作用的潜在功能后果,以及多态性与 miRNA 或靶标基因表达的关联。先前研究的结果表明,miRNA 基因及其靶标上存在自然选择的特征,并提出了一系列潜在的功能、表达相关和/或阳性选择的多态性,这些多态性具有进一步研究的潜力。同时,已经开发了一些关于多态性 miRNA 调控的有用资源,并且在本文中讨论了这些数据库的不同特点。尽管最近的研究受益于这些全面的研究和资源,但我们对 miRNA 调控中涉及的多态性的了解仍然存在差距,预计未来的研究将解决这些问题。