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Review
. 2016 Sep 23;10(1):30.
doi: 10.1186/s40246-016-0088-9.

Major influence of repetitive elements on disease-associated copy number variants (CNVs)

Ana R Cardoso  1   2   3 , Manuela Oliveira  1   2   3 , Antonio Amorim  1   2   3 , Luisa Azevedo  4   5   6
Affiliations
Review

Major influence of repetitive elements on disease-associated copy number variants (CNVs)

Ana R Cardoso et al. Hum Genomics. .

Abstract

Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) or non-homologous end joining (NHEJ). Here, we present a short guide based on previously documented cases of disease-associated CNVs in order to provide a general view on the impact of repeated elements on the stability of the genomic sequence and consequently in the origin of the human pathogenic variome.

Keywords: Copy number variants (CNVs); Genetic diseases; Genomic structural variation; LINE; Low copy repeats; Non-allelic homologous recombination (NAHR); Retrotransposons; SINE.

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Figures

Fig. 1
Fig. 1
Optimal LCRs features for the occurrence of NAHR events that result in CNV formation. Distinct LCR pairs with counter features such as homology, size, and inter-LCR distance influence NAHR rate and lead to the formation of common recurrent (a) or rare recurrent (b) copy number variants. Adapted from [3, 6, 12]
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References

    1. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 2009;84(2):148–161. doi: 10.1016/j.ajhg.2008.12.014. - DOI - PMC - PubMed
    1. Henrichsen CN, Chaignat E, Reymond A. Copy number variants, diseases and gene expression. Hum Mol Genet. 2009;18(R1):R1–R8. doi: 10.1093/hmg/ddp011. - DOI - PubMed
    1. Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016;17(4):224–238. doi: 10.1038/nrg.2015.25. - DOI - PMC - PubMed
    1. Chen L, Zhou W, Zhang L, Zhang F. Genome architecture and its roles in human copy number variation. Genomics Inform. 2014;12(4):136–144. doi: 10.5808/GI.2014.12.4.136. - DOI - PMC - PubMed
    1. Jobling MA, Hollox E, Hurles M, Kivisild T, Tyler-Smith C. Human evolutionary genetics: origins, peoples and disease. 2. New York: Garland Science; 2014.

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