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

Ana R Cardoso; Manuela Oliveira; Antonio Amorim; Luisa Azevedo

doi:10.1186/s40246-016-0088-9

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

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

Authors

Ana R Cardoso^{1

2

3}, Manuela Oliveira^{1

2

3}, Antonio Amorim^{1

2

3}, Luisa Azevedo^{4

5

6}

Affiliations

¹ Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal.
² IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Rua Júlio Amaral de Carvalho 45, 4200-135, Porto, Portugal.
³ Department of Biology, Faculty of Sciences, University of Porto, Rua do Campo Alegre S/N, 4169-007, Porto, Portugal.
⁴ Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal. lazevedo@ipatimup.pt.
⁵ IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Rua Júlio Amaral de Carvalho 45, 4200-135, Porto, Portugal. lazevedo@ipatimup.pt.
⁶ Department of Biology, Faculty of Sciences, University of Porto, Rua do Campo Alegre S/N, 4169-007, Porto, Portugal. lazevedo@ipatimup.pt.

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.

Publication types

Review