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@ARTICLE{Stalmann:178445,
author = {U. S. A. Stalmann and F. Ticconi and I. A. M. Snoeren and
R. Li and H. Gleitz and G. Cowley and M. E. McConkey and A.
B. Wong and S. Schmitz and S. N. R. Fuchs and S. Sood$^*$
and N. B. Leimkühler and S. Martinez-Høyer and B. Banjanin
and D. E. Root and T. H. Brümmendorf and J. Pearce and A.
Schuppert and E. Bindels and M. Essers$^*$ and D. Heckl and
T. P. Stiehl and I. G. Costa and B. L. Ebert and R. K.
Schneider},
title = {{G}enetic barcoding systematically comparing genes in
del(5q) {MDS} reveals a central role for {CSNK}1{A}1 in
clonal expansion.},
journal = {Blood advances},
volume = {6},
number = {6},
issn = {2473-9529},
address = {Washington, DC},
publisher = {American Society of Hematology},
reportid = {DKFZ-2022-00071},
pages = {1780-1796},
year = {2022},
note = {2022 Mar 22;6(6):1780-1796},
abstract = {How genetic haploinsufficiency contributes to the clonal
dominance of hematopoietic stem cells (HSC) in del(5q)
myelodysplastic syndrome (MDS) remains unresolved. Using a
genetic barcoding strategy, a systematic comparison was
carried out on genes implicated in the pathogenesis of
del(5q) MDS in direct competition with each other and
wild-type (WT) cells with single clone resolution. Csnk1a1
haploinsufficient HSCs expanded (oligo)clonally and
outcompeted all other tested genes and combinations.
Csnk1a1-/+ multipotent progenitors showed a
pro-proliferative gene signature and HSCs a downregulation
of inflammatory signaling/immune response. In validation
experiments, Csnk1a1-/+ HSCs outperformed their WT
counterparts under a chronic inflammation stimulus, also
known to be caused by neighboring genes on chromosome 5. A
crucial role for Csnk1a1 haploinsufficiency in the selective
advantage of the 5q- HSC is therefore proposed. It is
implemented by creation of a unique competitive advantage
through increased HSC self-renewal and proliferation
capacity, as well as increased fitness under inflammatory
stress.},
cin = {A011 / V960},
ddc = {610},
cid = {I:(DE-He78)A011-20160331 / I:(DE-He78)V960-20160331},
pnm = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
pid = {G:(DE-HGF)POF4-311},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:35016204},
doi = {10.1182/bloodadvances.2021006061},
url = {https://inrepo02.dkfz.de/record/178445},
}