Open Access

Copy number variations and constitutional chromothripsis (Review)

  • Authors:
    • Aldina Brás
    • António Sebastião Rodrigues
    • José Rueff
  • View Affiliations

  • Published online on: June 26, 2020     https://doi.org/10.3892/br.2020.1318
  • ArticleNumber: 11
  • Copyright : © Brás et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].

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Abstract

Both copy number variations (CNVs) and chromothripsis are phenomena that involve complex genomic rearrangements. Chromothripsis results in CNVs and other structural changes. CNVs are frequently observed in the human genome. Studies on CNVs have been increasing exponentially; the Database of Genomic Variants shows an increase in the number of data published on structural variations added to the database in the last 15 years. CNVs may be a result of replicative and non‑replicative mechanisms, and are hypothesized to serve important roles in human health and disease. Chromothripsis is a phenomena of chromosomal rearrangement following chromosomal breaks at multiple locations and involves impaired DNA repair. In 2011, Stephens et al coined the term chromothripsis for this type of fragmenting event. Several proposed mechanisms have been suggested to underlie chromothripsis, such as p53 inactivation, micronuclei formation, abortive apoptosis and telomere fusions in telomere crisis. Chromothripsis gives rise to normal or abnormal phenotypes. In this review, constitutional chromothripsis, which may coexist with multiple de novo CNVs are described and discussed. This reviews aims to summarize recent advances in our understanding of CNVs and chromothripsis, and describe the effects of these phenomena on human health and birth defects.

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September-2020
Volume 13 Issue 3

Print ISSN: 2049-9434
Online ISSN:2049-9442

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Spandidos Publications style
Brás A, Rodrigues AS and Rueff J: Copy number variations and constitutional chromothripsis (Review). Biomed Rep 13: 11, 2020
APA
Brás, A., Rodrigues, A.S., & Rueff, J. (2020). Copy number variations and constitutional chromothripsis (Review). Biomedical Reports, 13, 11. https://doi.org/10.3892/br.2020.1318
MLA
Brás, A., Rodrigues, A. S., Rueff, J."Copy number variations and constitutional chromothripsis (Review)". Biomedical Reports 13.3 (2020): 11.
Chicago
Brás, A., Rodrigues, A. S., Rueff, J."Copy number variations and constitutional chromothripsis (Review)". Biomedical Reports 13, no. 3 (2020): 11. https://doi.org/10.3892/br.2020.1318