Abstract
DNA copy number variation (CNV) occurs due to deletion or duplication of DNA segments resulting in a different number of copies of a specific DNA-stretch on homologous chromosomes. Implications of CNVs in evolution and development of different diseases have been demonstrated although contribution of environmental factors, such as mutagens, in the origin of CNVs, is poorly understood. In this review, we summarize current knowledge about mutagen-induced CNVs in human, animal and plant cells. Differences in CNV frequencies induced by radiation and chemical mutagens, distribution of CNVs in the genome, as well as adaptive effects in plants, are discussed. Currently available information concerning impact of mutagens in induction of CNVs in germ cells is presented. Moreover, the potential of CNVs as a new endpoint in mutagenicity test-systems is discussed.
Highlights
Iafrate et al and Sebat et al first described euchromatic large-scale copy number polymorphisms in the human genome [1,2]
We studied copy number variation (CNV) in chromosomal regions 1p31.1, 7q11.22, 9q21.3, 10q21.1 and 16q23.1 in cultured normal human blood leukocytes irradiated with laser-driven electron bunches using parental origin determination fluorescence in situ hybridization (FISH) (POD-FISH) [25]
There is ongoing concern about the consequences of mutations in humans and biota arising from environmental exposure
Summary
Iafrate et al and Sebat et al first described euchromatic large-scale copy number polymorphisms in the human genome [1,2]. Copy number variation (CNV) has been recognized as the common type of polymorphism in the genomes of humans, animals and plants [3,4,5,6]. CNVs result from unbalanced DNA rearrangements that increase or decrease the DNA content leading to changes in the number of copies of a particular DNA sequence. It is estimated that common CNVs occur in approximately 9.5% of the human reference genome and have non-random distribution, they frequently occur in replication origins and palindromic regions [5]. CNVs are important in genome variation and genetic disease, with new mutations arising frequently in the germline and somatic cells. We will discuss the results of our studies of CNVs induced by aflatoxin B1 and accelerated electrons
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