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@ARTICLE{Hovestadt:120695,
author = {V. Hovestadt$^*$ and D. Jones$^*$ and S. Picelli$^*$ and W.
Wang$^*$ and M. Kool$^*$ and P. A. Northcott$^*$ and M.
Sultan and K. Stachurski and M. Ryzhova and H.-J. Warnatz
and M. Ralser and S. Brun and J. Bunt and N. Jäger$^*$ and
K. Kleinheinz$^*$ and S. Erkek$^*$ and U. Weber$^*$ and C.
C. Bartholomae$^*$ and C. von Kalle$^*$ and C. Lawerenz$^*$
and J. Eils$^*$ and J. Koster and R. Versteeg and T.
Milde$^*$ and O. Witt$^*$ and S. Schmidt$^*$ and S. Wolf$^*$
and T. Pietsch and S. Rutkowski and W. Scheurlen and M. D.
Taylor and B. Brors$^*$ and J. Felsberg$^*$ and G.
Reifenberger$^*$ and A. Borkhardt$^*$ and H. Lehrach and R.
J. Wechsler-Reya and R. Eils$^*$ and M.-L. Yaspo and P.
Landgraf and A. Korshunov$^*$ and M. Zapatka$^*$ and B.
Radlwimmer$^*$ and S. Pfister$^*$ and P. Lichter$^*$},
title = {{D}ecoding the regulatory landscape of medulloblastoma
using {DNA} methylation sequencing.},
journal = {Nature},
volume = {510},
number = {7506},
issn = {1476-4687},
address = {London [u.a.]},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2017-01121},
pages = {537 - 541},
year = {2014},
abstract = {Epigenetic alterations, that is, disruption of DNA
methylation and chromatin architecture, are now acknowledged
as a universal feature of tumorigenesis. Medulloblastoma, a
clinically challenging, malignant childhood brain tumour, is
no exception. Despite much progress from recent genomics
studies, with recurrent changes identified in each of the
four distinct tumour subgroups (WNT-pathway-activated,
SHH-pathway-activated, and the less-well-characterized Group
3 and Group 4), many cases still lack an obvious genetic
driver. Here we present whole-genome bisulphite-sequencing
data from thirty-four human and five murine tumours plus
eight human and three murine normal controls, augmented with
matched whole-genome, RNA and chromatin immunoprecipitation
sequencing data. This comprehensive data set allowed us to
decipher several features underlying the interplay between
the genome, epigenome and transcriptome, and its effects on
medulloblastoma pathophysiology. Most notable were highly
prevalent regions of hypomethylation correlating with
increased gene expression, extending tens of kilobases
downstream of transcription start sites. Focal regions of
low methylation linked to transcription-factor-binding sites
shed light on differential transcriptional networks between
subgroups, whereas increased methylation due to
re-normalization of repressed chromatin in DNA methylation
valleys was positively correlated with gene expression.
Large, partially methylated domains affecting up to
one-third of the genome showed increased mutation rates and
gene silencing in a subgroup-specific fashion. Epigenetic
alterations also affected novel medulloblastoma candidate
genes (for example, LIN28B), resulting in alternative
promoter usage and/or differential messenger RNA/microRNA
expression. Analysis of mouse medulloblastoma and
precursor-cell methylation demonstrated a somatic origin for
many alterations. Our data provide insights into the
epigenetic regulation of transcription and genome
organization in medulloblastoma pathogenesis, which are
probably also of importance in a wider developmental and
disease context.},
keywords = {Chromatin (NLM Chemicals) / Histones (NLM Chemicals) /
LIN28B protein, human (NLM Chemicals) / RNA-Binding Proteins
(NLM Chemicals) / Transcription Factors (NLM Chemicals)},
cin = {B060 / B062 / B080 / G100 / G340 / W190 / L401 / L101 /
G200},
ddc = {070},
cid = {I:(DE-He78)B060-20160331 / I:(DE-He78)B062-20160331 /
I:(DE-He78)B080-20160331 / I:(DE-He78)G100-20160331 /
I:(DE-He78)G340-20160331 / I:(DE-He78)W190-20160331 /
I:(DE-He78)L401-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)G200-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:24847876},
doi = {10.1038/nature13268},
url = {https://inrepo02.dkfz.de/record/120695},
}