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Updated: Jun 24, 2026
11:35
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Copy number variants, diseases and gene expression.
Charlotte N Henrichsen1, Evelyne Chaignat, Alexandre Reymond
1The Center for Integrative Genomics, Genopode Building, University of Lausanne, Lausanne, Switzerland.
Human Molecular Genetics
|March 20, 2009
Summary
Copy number variation (CNV) influences gene expression and the transcriptome. Further research is needed to fully catalog CNVs and understand their mechanisms in gene regulation.
Area of Science:
- Genetics
- Genomics
- Bioinformatics
Background:
- Copy number variation (CNV) is a significant source of genetic diversity, impacting phenotypic variation and evolution.
- CNVs have been identified in humans and model organisms using bioinformatics and hybridization methods.
- CNV associations with complex diseases and genomic disorders are increasingly recognized.
Purpose of the Study:
- To review current catalogs of CNVs and their disease associations.
- To explore the link between genotype and phenotype mediated by CNVs.
- To summarize the functional impact of CNVs on gene expression and the transcriptome.
Main Methods:
- Review of existing literature and databases on CNVs.
- Analysis of studies identifying and mapping CNV regions.
- Examination of evidence on gene expression and transcriptome-wide effects of CNVs.
Main Results:
- Genes within CNV regions exhibit lower and more variable expression levels.
- CNVs impact not only the genes they encompass but also have a global effect on the transcriptome.
- CNVs are linked to complex diseases and genomic disorders.
Conclusions:
- CNVs play a crucial role in genetic variation, disease, and evolution.
- Further comprehensive cataloging and fine-mapping of CNVs are essential.
- Elucidating the mechanisms by which CNVs influence gene expression requires additional investigation.
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