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微小RNA基因上的拷贝数变异负荷揭示了参与通路调控和表型表达的复杂层面。

Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression.

作者信息

Veerappa Avinash M, Murthy Megha N, Vishweswaraiah Sangeetha, Lingaiah Kusuma, Suresh Raviraj V, Nachappa Somanna Ajjamada, Prashali Nelchi, Yadav Sangeetha Nuggehalli, Srikanta Manjula Arsikere, Manjegowda Dinesh S, Seshachalam Keshava B, Ramachandra Nallur B

机构信息

Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.

Department of Anatomy, Yenepoya Medical College, Yenepoya University, Mangalore, Karnataka, India ; Nitte University Centre for Science Education & Research, K S Hegde Medical Academy, Nitte University, Deralakatte, Mangalore, Karnataka, India.

出版信息

PLoS One. 2014 Feb 28;9(2):e90391. doi: 10.1371/journal.pone.0090391. eCollection 2014.

DOI:10.1371/journal.pone.0090391
PMID:24587348
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3938728/
Abstract

MicroRNAs are involved in post-transcriptional down-regulation of gene expression. Variations in miRNA genes can severely affect downstream-regulated genes and their pathways. However, population-specific burden of CNVs on miRNA genes and the complexities created towards the phenotype is not known. From a total of 44109 CNVs investigated from 1715 individuals across 12 populations using high-throughput arrays, 4007 miRNA-CNVs (∼ 9%) consisting 6542 (∼ 5%) miRNA genes with a total of 333 (∼ 5%) singleton miRNA genes were identified. We found miRNA-CNVs across the genomes of individuals showing multiple hits in many targets, co-regulated under the same pathway. This study proposes four mechanisms unraveling the many complexities in miRNA genes, targets and co-regulated miRNA genes towards establishment of phenotypic diversity.

摘要

微小RNA参与基因表达的转录后下调。微小RNA基因的变异会严重影响下游调控基因及其通路。然而，拷贝数变异对微小RNA基因的群体特异性负担以及由此产生的表型复杂性尚不清楚。通过使用高通量阵列对12个群体的1715名个体进行的总共44109个拷贝数变异进行研究，鉴定出4007个微小RNA拷贝数变异（约9%），包含6542个（约5%）微小RNA基因，其中共有333个（约5%）单拷贝微小RNA基因。我们发现个体基因组中的微小RNA拷贝数变异在许多靶点上有多个命中，在同一通路下共同调控。本研究提出了四种机制，以揭示微小RNA基因、靶点和共同调控的微小RNA基因在建立表型多样性方面的诸多复杂性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/5e606acde579/pone.0090391.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/7050303f2840/pone.0090391.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/d2985a0e0962/pone.0090391.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/0495ccaeeb48/pone.0090391.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/82fb3d26cf6e/pone.0090391.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/5e606acde579/pone.0090391.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/7050303f2840/pone.0090391.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/d2985a0e0962/pone.0090391.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/0495ccaeeb48/pone.0090391.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/82fb3d26cf6e/pone.0090391.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3523/3938728/5e606acde579/pone.0090391.g005.jpg

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