Functional genetic variation of human miRNAs and phenotypic consequences
Functional genetic variation of human miRNAs and phenotypic consequences
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DOI：
10.1007/s00335-008-9137-6
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发表时间：
2008-08-01
期刊：
影响因子：
2.5
通讯作者：
Antonarakis, Stylianos E.
中科院分区：
文献类型：
--
作者：
Borel, Christelle;Antonarakis, Stylianos E.
大量的人类蛋白质编码基因受到一个或多个microRNAs的精细调控。这个小的非编码RNA家族的成员已经成为基因表达的重要转录后调节因子，并参与了许多疾病表型。人类基因组具有广泛的可变性，包括常见和罕见的单核苷酸多态(SNPs)和拷贝数变异(CNV)。基因组变异性的功能意义正在紧张的研究中。在这篇文章中，我们回顾了关于人类基因组变异如何影响microRNA靶向的结果和相关的表型效应的最新文献。举例说明了影响miRNA介导的基因调控的功能多态的生物学重要性。
A large number of human protein-coding genes are finely regulated by one or more microRNAs. Members of this small noncoding RNA family have emerged as important post-transcriptional regulators of gene expression and are involved in a number of disease phenotypes. Variability in the human genome is extensive and includes the common and rare single nucleotide polymorphisms (SNPs) and copy number variations (CNVs). The functional significance of the genome's variability is under intense investigation. In this article we review the emerging literature on how human genomic variation influences the outcome of microRNA targeting and the associated phenotypic effects. Illustrative examples are discussed that demonstrate the biological importance of functional polymorphisms affecting miRNA-mediated gene regulation.