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

Abstract

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.

CNest: A Novel Copy Number Association Discovery Method Uncovers 862 New Associations from 200,629 Whole Exome Sequence Datasets in the UK Biobank

“…However, for the majority of common genetic diseases these associations only account for part of the heritable disease risk (11)(12)(13). In terms of total base pairs differences CNV accounts for the majority of genetic differences between any two genomes (14)(15)(16)(17)(18) and have long been known to cause large differences in human trait distributions (19)(20)(21), often with a strong impact on human health (22,23). This is highlighted best within the large body of research that has spent decades studying CNV in relation to rare genetic disease (24)(25)(26).…”

Greek gods and the double-edged sword of liver regeneration

“…Pös et al. advocate clearly defining CNVs in order to fully explore the insights various forms of polymorphism offer to scientific research [ 22 ].…”

Automated prediction of the clinical impact of structural copy number variations

“…Copy number variants (CNVs) are unbalanced structural rearrangements of the genome leading to genetic and phenotypic variability between individuals and populations. It includes gains or losses of particular DNA sequences that may contribute to the development of human genetic diseases 1 , 2 including microdeletion syndromes such as DiGeorge (22q11.2), Wolf-Hirschhorn (4p16.3), Prader-Willi and Angelman 15q11, Cri-Du-Chat (5p15), or 1p36 deletion 3 . It is known that CNVs can directly affect the gene coding sequence and cause disruption of a gene or alter gene dosage 4 .…”