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miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability Qiao, Ying; Badduke, Chansonette; Mercier, Eloi; Lewis, Suzanne M; Pavlidis, Paul; Rajcan-Separovic, Evica

Abstract

Background: MicroRNAs (miRNAs) are a family of short, non-coding RNAs modulating expression of human protein coding genes (miRNA target genes). Their dysfunction is associated with many human diseases, including neurodevelopmental disorders. It has been recently shown that genomic copy number variations (CNVs) can cause aberrant expression of integral miRNAs and their target genes, and contribute to intellectual disability (ID). Results To better understand the CNV-miRNA relationship in ID, we investigated the prevalence and function of miRNAs and miRNA target genes in five groups of CNVs. Three groups of CNVs were from 213 probands with ID (24 de novo CNVs, 46 familial and 216 common CNVs), one group of CNVs was from a cohort of 32 cognitively normal subjects (67 CNVs) and one group of CNVs represented 40 ID related syndromic regions listed in DECIPHER (30 CNVs) which served as positive controls for CNVs causing or predisposing to ID. Our results show that 1). The number of miRNAs is significantly higher in de novo or DECIPHER CNVs than in familial or common CNV subgroups (P 

Item Metadata

Title
miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability
Creator
Qiao, Ying; Badduke, Chansonette; Mercier, Eloi; Lewis, Suzanne M; Pavlidis, Paul; Rajcan-Separovic, Evica
Contributor
Child and Family Research Institute; Michael Smith Laboratories
Publisher
BioMed Central
Date Issued
2013-08-10
Description
Background: MicroRNAs (miRNAs) are a family of short, non-coding RNAs modulating expression of human protein coding genes (miRNA target genes). Their dysfunction is associated with many human diseases, including neurodevelopmental disorders. It has been recently shown that genomic copy number variations (CNVs) can cause aberrant expression of integral miRNAs and their target genes, and contribute to intellectual disability (ID). Results To better understand the CNV-miRNA relationship in ID, we investigated the prevalence and function of miRNAs and miRNA target genes in five groups of CNVs. Three groups of CNVs were from 213 probands with ID (24 de novo CNVs, 46 familial and 216 common CNVs), one group of CNVs was from a cohort of 32 cognitively normal subjects (67 CNVs) and one group of CNVs represented 40 ID related syndromic regions listed in DECIPHER (30 CNVs) which served as positive controls for CNVs causing or predisposing to ID. Our results show that 1). The number of miRNAs is significantly higher in de novo or DECIPHER CNVs than in familial or common CNV subgroups (P 
Subject
Micro RNA (miRNA); Copy number variants (CNVs); Copy number variant regions (CNVRs); Intellectual disabilities (ID); Functional pathways
Genre
Article
Type
Text
Language
eng
Date Available
2015-12-17
Provider
Vancouver : University of British Columbia Library
Rights
Attribution 4.0 International (CC BY 4.0)
DOI
10.14288/1.0221344
URI
http://hdl.handle.net/2429/55862
Affiliation
Medical Genetics, Department of; Medicine, Faculty of; Pathology and Laboratory Medicine, Department of; Other UBC
Citation
BMC Genomics. 2013 Aug 10;14(1):544
Publisher DOI
10.1186/1471-2164-14-544
Peer Review Status
Reviewed
Scholarly Level
Faculty
Copyright Holder
Qiao et al.; licensee BioMed Central Ltd.
Rights URI
http://creativecommons.org/licenses/by/4.0/
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Attribution 4.0 International (CC BY 4.0)