Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma

Abstract Aberrant genetic and epigenetic variations drive malignant transformation and are hallmarks of cancer. Using PCR-free sample preparation we achieved the first in-depth whole genome (hydroxyl)-methylcytosine, single-base-resolution maps from a glioblastoma tumour/margin sample of a patient....

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Autores principales:	Eun-Ang Raiber, Dario Beraldi, Sergio Martínez Cuesta, Gordon R. McInroy, Zoya Kingsbury, Jennifer Becq, Terena James, Margarida Lopes, Kieren Allinson, Sarah Field, Sean Humphray, Thomas Santarius, Colin Watts, David Bentley, Shankar Balasubramanian
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/d643e54649364e6b98631c4333afedd9
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spelling	oai:doaj.org-article:d643e54649364e6b98631c4333afedd92021-12-02T12:34:18ZBase resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma10.1038/s41525-017-0007-62056-7944https://doaj.org/article/d643e54649364e6b98631c4333afedd92017-03-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0007-6https://doaj.org/toc/2056-7944Abstract Aberrant genetic and epigenetic variations drive malignant transformation and are hallmarks of cancer. Using PCR-free sample preparation we achieved the first in-depth whole genome (hydroxyl)-methylcytosine, single-base-resolution maps from a glioblastoma tumour/margin sample of a patient. Our data provide new insights into how genetic and epigenetic variations are interrelated. In the tumour, global hypermethylation with a depletion of 5-hydroxymethylcytosine was observed. The majority of single nucleotide variations were identified as cytosine-to-thymine deamination products within CpG context, where cytosine was preferentially methylated in the margin. Notably, we observe that cells neighbouring tumour cells display epigenetic alterations characteristic of the tumour itself although genetically they appear “normal”. This shows the potential transfer of epigenetic information between cells that contributes to the intratumour heterogeneity of glioblastoma. Together, our reference (epi)-genome provides a human model system for future studies that aim to explore the link between genetic and epigenetic variations in cancer progression.Eun-Ang RaiberDario BeraldiSergio Martínez CuestaGordon R. McInroyZoya KingsburyJennifer BecqTerena JamesMargarida LopesKieren AllinsonSarah FieldSean HumphrayThomas SantariusColin WattsDavid BentleyShankar BalasubramanianNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Eun-Ang Raiber Dario Beraldi Sergio Martínez Cuesta Gordon R. McInroy Zoya Kingsbury Jennifer Becq Terena James Margarida Lopes Kieren Allinson Sarah Field Sean Humphray Thomas Santarius Colin Watts David Bentley Shankar Balasubramanian Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma
description	Abstract Aberrant genetic and epigenetic variations drive malignant transformation and are hallmarks of cancer. Using PCR-free sample preparation we achieved the first in-depth whole genome (hydroxyl)-methylcytosine, single-base-resolution maps from a glioblastoma tumour/margin sample of a patient. Our data provide new insights into how genetic and epigenetic variations are interrelated. In the tumour, global hypermethylation with a depletion of 5-hydroxymethylcytosine was observed. The majority of single nucleotide variations were identified as cytosine-to-thymine deamination products within CpG context, where cytosine was preferentially methylated in the margin. Notably, we observe that cells neighbouring tumour cells display epigenetic alterations characteristic of the tumour itself although genetically they appear “normal”. This shows the potential transfer of epigenetic information between cells that contributes to the intratumour heterogeneity of glioblastoma. Together, our reference (epi)-genome provides a human model system for future studies that aim to explore the link between genetic and epigenetic variations in cancer progression.
format	article
author	Eun-Ang Raiber Dario Beraldi Sergio Martínez Cuesta Gordon R. McInroy Zoya Kingsbury Jennifer Becq Terena James Margarida Lopes Kieren Allinson Sarah Field Sean Humphray Thomas Santarius Colin Watts David Bentley Shankar Balasubramanian
author_facet	Eun-Ang Raiber Dario Beraldi Sergio Martínez Cuesta Gordon R. McInroy Zoya Kingsbury Jennifer Becq Terena James Margarida Lopes Kieren Allinson Sarah Field Sean Humphray Thomas Santarius Colin Watts David Bentley Shankar Balasubramanian
author_sort	Eun-Ang Raiber
title	Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma
title_short	Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma
title_full	Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma
title_fullStr	Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma
title_full_unstemmed	Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma
title_sort	base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/d643e54649364e6b98631c4333afedd9
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Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma

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