DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

• Published in: Biomedical Journal Vol. 44; no. 5; pp. 548 - 559
• Main Authors: Pös, Ondrej, Radvanszky, Jan, Buglyó, Gergely, Pös, Zuzana, Rusnakova, Diana, Nagy, Bálint, Szemes, Tomas
• Format: Journal Article
• Language: English
• Published: United States Elsevier B.V 01.10.2021; Elsevier Limited; Chang Gung University; Elsevier
• Subjects: Biomarkers; Cancer; Cardiovascular diseases; Chromosomes; CNV formation; Copy number; Copy number variants; Diagnosis; DNA Copy Number Variations - genetics; Enzymes; Evolution; Female; Genetic diseases; Genetic testing; Genomes; Genomics; Genotype & phenotype; Human genome; Humans; Microbiomes; Microbiota; Physiology; Pregnancy; Review; Structural variation; Evolution; CNV formation; Human genome; Genetic diseases; Structural variation; Copy number variants
• ISSN: 2319-4170; 2320-2890; 2320-2890
• DOI: 10.1016/j.bj.2021.02.003

Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host–microbiome interactions. CNVs have found application in the molecular diagnosis of many diseases and in non-invasive prenatal care, but their full potential is only emerging. CNVs are expected to have a tremendous impact on screening, diagnosis, prognosis, and monitoring of several disorders, including cancer and cardiovascular disease. Here, we comprehensively review basic definitions of the term CNV, outline mechanisms and factors involved in CNV formation, and discuss their evolutionary and pathological aspects. We suggest a need for better defined distinguishing criteria and boundaries between known types of CNVs.