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Concurrent Zrsr2 mutation and Tet2 loss promote ... - Nature
https://www.nature.com/articles/s41375-022-01674-2
WEBAug 27, 2022 · Here, we show that concurrent mutations in Zrsr2 and Tet2 promote MDS via dysregulation of gene expression and alternative splicing. We detect a disruption in myelo-erythroid differentiation...
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ZRSR2 Mutation Induced Minor Intron Retention Drives MDS and …
https://ashpublications.org/blood/article/136/Supplement%201/10/470256/ZRSR2-Mutation-Induced-Minor-Intron-Retention
WEBNov 5, 2020 · To understand the mechanistic basis by which ZRSR2 loss causes aberrant HSC self-renewal, we quantified transcriptome-wide splicing patterns in MDS patients. ZRSR2 -mutant samples had widespread, dysfunctional recognition of minor introns- 48% of minor introns exhibiting significantly increased retention ( Fig. D ).
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ZRSR2 Mutations Cause Dysregulated RNA Splicing in MDS
https://ashpublications.org/blood/article/124/21/4609/94026/ZRSR2-Mutations-Cause-Dysregulated-RNA-Splicing-in
WEBDec 6, 2014 · Mutations in ZRSR2are more prevalent in MDS subtypes without ring sideroblasts and chronic myelomonocytic leukemia (CMML) and are associated with elevated bone marrow blasts and higher rate of progression to AML. Although ZRSR2 has been suggested to interact with other splice proteins, U2AF2 and SRSF2, at the 3΄ splice sites …
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Spliceosomal Factor Mutations and Mis-splicing in MDS - PMC
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8078562/
WEBZRSR2 mutations are present in MDS patients at a frequency of 3–8%. But ZRSR2 occurs less frequently (<2%) of patients with AML [ 3 , 61 ]. Additionally, ZRSR2 expression is decreased in the bone marrow of patients with myeloid neoplasms compared to healthy individuals [ 86 ].
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Minor intron retention drives clonal hematopoietic disorders and
https://www.nature.com/articles/s41588-021-00828-9
WEBApr 12, 2021 · Consistent with the effect of ZRSR2 mutations in MDS on splicing, hematopoietic precursors (lineage-negative c-Kit + cells) from mice deficient for Zrsr2 exhibited global increases in...
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Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831459/
WEBFeb 2, 2022 · ZRSR2 belongs to the minor subset of X chromosome genes that escape X inactivation silencing and is biallelically expressed in female cells . The finding that ZRSR2 is also preferentially mutated in BPDCN and MDS from males strongly suggests that ZRSR2 is an escape from X inactivation tumor suppressor (EXITS) gene .
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The functional mechanisms of mutations in myelodysplastic syndrome …
https://www.nature.com/articles/s41375-019-0617-3
WEBOct 31, 2019 · Focusing on the most frequently mutated pathways, 65% of MDS patients harbored mutations in RNA splicing ( SF3B1, SRSF2, U2AF1, ZRSR2) [ 12 ], followed by 47% harboring mutations in DNA...
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Zrsr2 Is Essential for the Embryonic Development and Splicing of …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9501576/
WEBSep 14, 2022 · ZRSR2 is an essential component of both the major and minor spliceosomes and is frequently mutated in hematopoietic disorders, particularly MDS. Recent studies have uncovered its requirement in the proper splicing of U12-type introns as a component of the minor spliceosome [ 19 , 20 , 21 ].
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Genetics of MDS | Blood | American Society of Hematology
https://ashpublications.org/blood/article/133/10/1049/272730/Genetics-of-MDS
WEBMar 7, 2019 · Mutations in some genes are significantly enriched in sAML compared with high-risk MDS, including FLT3, NPM1, NRAS, PTPN11, WT1, IDH1, and IDH2 (type I genes), while other genes are more commonly mutated in high-risk compared with low-risk MDS, such as GATA2, RUNX1, TET2, ZRSR2, TP53, STAG2, and ASXL1 (type II genes). 36 It is of note …
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ZRSR1 cooperates with ZRSR2 in regulating splicing of U12-type ... - PubMed
https://pubmed.ncbi.nlm.nih.gov/33691379/
WEBRecurrent loss-of-function mutations of spliceosome gene, ZRSR2, occur in myelodysplastic syndromes (MDS). Mutation/loss of ZRSR2 in human myeloid cells primarily causes impaired splicing of the U12-type introns. To investigate further the role of this splice factor in splicing and hematopoietic dev …
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