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

Pös O

Pös O(1), Radvanszky J(2), Buglyó G(3), Pös Z(4), Rusnakova D(1), Nagy B(5), Szemes T(6).
Author information:
(1)Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia.
(2)Geneton s.r.o., Bratislava, Slovakia; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia. Electronic address: [Email]
(3)Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
(4)Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia; Institute of Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
(5)Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address: [Email]
(6)Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton s.r.o., Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia.

https://dx.doi.org/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.