Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cells

The true importance of cell-free DNA in human biology, together with the potential scale of its clinical utility, is tarnished by a lack of understanding of its composition and origin. In investigating the cell-free DNA present in the growth medium of cultured 143B cells, we previously demonstrated...

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Main Authors: Abel Jacobus Bronkhorst, Johannes F Wentzel, Vida Ungerer, Dimetrie L Peters, Janine Aucamp, Etienne Pierre de Villiers, Stefan Holdenrieder, Piet J Pretorius
Format: Article
Language:English
Published: SAGE Publishing 2018-09-01
Series:Tumor Biology
Online Access:https://doi.org/10.1177/1010428318801190
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author Abel Jacobus Bronkhorst
Johannes F Wentzel
Vida Ungerer
Dimetrie L Peters
Janine Aucamp
Etienne Pierre de Villiers
Stefan Holdenrieder
Piet J Pretorius
author_facet Abel Jacobus Bronkhorst
Johannes F Wentzel
Vida Ungerer
Dimetrie L Peters
Janine Aucamp
Etienne Pierre de Villiers
Stefan Holdenrieder
Piet J Pretorius
author_sort Abel Jacobus Bronkhorst
collection DOAJ
description The true importance of cell-free DNA in human biology, together with the potential scale of its clinical utility, is tarnished by a lack of understanding of its composition and origin. In investigating the cell-free DNA present in the growth medium of cultured 143B cells, we previously demonstrated that the majority of cell-free DNA is neither a product of apoptosis nor necrosis. In the present study, we investigated the composition and origin of this cell-free DNA population using next-generation sequencing. We found that the cell-free DNA comprises mainly of repetitive DNA, including α-satellite DNA, mini satellites, and transposons that are currently active or exhibit the capacity to become reactivated. A significant portion of these cell-free DNA fragments originates from specific chromosomes, especially chromosomes 1 and 9. In healthy adult somatic cells, the centromeric and pericentromeric regions of these chromosomes are normally densely methylated. However, in many cancer types, these regions are preferentially hypomethylated. This can lead to double-stranded DNA breaks or it can directly impair the formation of proper kinetochore structures. This type of chromosomal instability is a precursor to the formation of nuclear anomalies, including lagging chromosomes and anaphase bridges. DNA fragments derived from these structures can recruit their own nuclear envelope and form secondary nuclear structures known as micronuclei, which can localize to the nuclear periphery and bud out from the membrane. We postulate that the majority of cell-free DNA present in the growth medium of cultured 143B cells originates from these micronuclei.
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spelling doaj-art-97cf857cfc46473ca7562642d2ea3b1a2025-08-20T03:56:55ZengSAGE PublishingTumor Biology1423-03802018-09-014010.1177/1010428318801190Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cellsAbel Jacobus Bronkhorst0Johannes F Wentzel1Vida Ungerer2Dimetrie L Peters3Janine Aucamp4Etienne Pierre de Villiers5Stefan Holdenrieder6Piet J Pretorius7Institute for Laboratory Medicine, German Heart Centre, Technical University Munich, Munich, GermanyCentre of Excellence for Nutrition (CEN), North-West University, Potchefstroom, South AfricaInstitute for Laboratory Medicine, German Heart Centre, Technical University Munich, Munich, GermanyHuman Metabolomics, Biochemistry Division, North-West University, Potchefstroom, South AfricaCentre of Excellence for Pharmaceutical Sciences, North-West University, Potchefstroom, South AfricaCentre for Tropical Medicine, University of Oxford, Oxford, United KingdomInstitute for Laboratory Medicine, German Heart Centre, Technical University Munich, Munich, GermanyHuman Metabolomics, Biochemistry Division, North-West University, Potchefstroom, South AfricaThe true importance of cell-free DNA in human biology, together with the potential scale of its clinical utility, is tarnished by a lack of understanding of its composition and origin. In investigating the cell-free DNA present in the growth medium of cultured 143B cells, we previously demonstrated that the majority of cell-free DNA is neither a product of apoptosis nor necrosis. In the present study, we investigated the composition and origin of this cell-free DNA population using next-generation sequencing. We found that the cell-free DNA comprises mainly of repetitive DNA, including α-satellite DNA, mini satellites, and transposons that are currently active or exhibit the capacity to become reactivated. A significant portion of these cell-free DNA fragments originates from specific chromosomes, especially chromosomes 1 and 9. In healthy adult somatic cells, the centromeric and pericentromeric regions of these chromosomes are normally densely methylated. However, in many cancer types, these regions are preferentially hypomethylated. This can lead to double-stranded DNA breaks or it can directly impair the formation of proper kinetochore structures. This type of chromosomal instability is a precursor to the formation of nuclear anomalies, including lagging chromosomes and anaphase bridges. DNA fragments derived from these structures can recruit their own nuclear envelope and form secondary nuclear structures known as micronuclei, which can localize to the nuclear periphery and bud out from the membrane. We postulate that the majority of cell-free DNA present in the growth medium of cultured 143B cells originates from these micronuclei.https://doi.org/10.1177/1010428318801190
spellingShingle Abel Jacobus Bronkhorst
Johannes F Wentzel
Vida Ungerer
Dimetrie L Peters
Janine Aucamp
Etienne Pierre de Villiers
Stefan Holdenrieder
Piet J Pretorius
Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cells
Tumor Biology
title Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cells
title_full Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cells
title_fullStr Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cells
title_full_unstemmed Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cells
title_short Sequence analysis of cell-free DNA derived from cultured human bone osteosarcoma (143B) cells
title_sort sequence analysis of cell free dna derived from cultured human bone osteosarcoma 143b cells
url https://doi.org/10.1177/1010428318801190
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