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@ARTICLE{Hbner:143291,
author = {J.-M. Hübner$^*$ and T. Müller$^*$ and D. N.
Papageorgiou$^*$ and M. Mauermann$^*$ and J. Krijgsveld$^*$
and R. B. Russell and D. W. Ellison and S. Pfister$^*$ and
K. Pajtler$^*$ and M. Kool$^*$},
title = {{EZHIP} / {CX}orf67 mimics {K}27{M} mutated oncohistones
and functions as an intrinsic inhibitor of {PRC}2 function
in aggressive posterior fossa ependymoma.},
journal = {Neuro-Oncology},
volume = {21},
number = {7},
issn = {1523-5866},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2019-00889},
pages = {878-889},
year = {2019},
abstract = {Posterior fossa A (PFA) ependymomas comprise one out of
nine molecular groups of ependymoma. PFA tumors are mainly
diagnosed in infants and young children, show a poor
prognosis and are characterized by a lack of the repressive
histone H3 lysine 27 trimethylation (H3K27me3) mark.
Recently, we reported CXorf67 overexpression as hallmark of
PFA ependymoma and showed that CXorf67 can interact with
EZH2 thereby inhibiting polycomb repressive complex 2
(PRC2), but the mechanism of action remained unclear.We
performed mass spectrometry (MS) and peptide modelling
analyses to identify the functional domain of CXorf67
responsible for binding and inhibition of EZH2. Our findings
were validated by immunocytochemistry, western blot and
methyltransferase assays.We find that the inhibitory
mechanism of CXorf67 is similar as in diffuse midline
gliomas harboring H3K27M mutations. A small, highly
conserved peptide sequence located in the C-terminal region
of CXorf67 mimics the sequence of K27M mutated histones and
binds to the SET domain of EZH2. This interaction blocks
EZH2 methyltransferase activity and inhibits PRC2 function
causing de-repression of PRC2 target genes including genes
involved in neurodevelopment.Expression of CXorf67 is an
oncogenic mechanism that drives H3K27 hypomethylation in PFA
tumors by mimicking K27M mutated histones. Disrupting the
interaction between CXorf67 and EZH2 may serve as a novel
targeted therapy for PFA tumors but also for other tumors
that overexpress CXorf67. Based on its function, we have
renamed CXorf67 into EZH Inhibitory Protein (EZHIP).},
cin = {B062 / B230},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)B230-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30923826},
doi = {10.1093/neuonc/noz058},
url = {https://inrepo02.dkfz.de/record/143291},
}