Expression of circular RNAs in myelodysplastic neoplasms and their association with mutations in the splicing factor gene SF3B1
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61388963%3A_____%2F23%3A00574060" target="_blank" >RIV/61388963:_____/23:00574060 - isvavai.cz</a>
Alternative codes found
RIV/00023736:_____/23:00013548 RIV/68407700:21230/23:00367288 RIV/00216208:11310/23:10466853 RIV/00159816:_____/23:00079758 RIV/00064165:_____/23:10466853
Result on the web
<a href="https://doi.org/10.1002/1878-0261.13486" target="_blank" >https://doi.org/10.1002/1878-0261.13486</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/1878-0261.13486" target="_blank" >10.1002/1878-0261.13486</a>
Alternative languages
Result language
angličtina
Original language name
Expression of circular RNAs in myelodysplastic neoplasms and their association with mutations in the splicing factor gene SF3B1
Original language description
Mutations in the splicing factor 3b subunit 1 (SF3B1) gene are frequent in myelodysplastic neoplasms (MDS). Because the splicing process is involved in the production of circular RNAs (circRNAs), we investigated the impact of SF3B1 mutations on circRNA processing. Using RNA sequencing, we measured circRNA expression in CD34+ bone marrow MDS cells. We defined circRNAs deregulated in a heterogeneous group of MDS patients and described increased circRNA formation in higher-risk MDS. We showed that the presence of SF3B1 mutations did not affect the global production of circRNAs, however, deregulation of specific circRNAs was observed. Particularly, we demonstrated that strong upregulation of circRNAs processed from the zinc finger E-box binding homeobox 1 (ZEB1) transcription factor, this upregulation was exclusive to SF3B1-mutated patients and was not observed in those with mutations in other splicing factors or other recurrently mutated genes, or with other clinical variables. Furthermore, we focused on the most upregulated ZEB1-circRNA, hsa_circ_0000228, and, by its knockdown, we demonstrated that its expression is related to mitochondrial activity. Using microRNA analyses, we proposed miR-1248 as a direct target of hsa_circ_0000228. To conclude, we demonstrated that mutated SF3B1 leads to deregulation of ZEB1-circRNAs, potentially contributing to the defects in mitochondrial metabolism observed in SF3B1-mutated MDS.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/GA20-19162S" target="_blank" >GA20-19162S: Circular RNAs and their relation to RNA splicing in the pathogenesis of myelodysplastic syndromes</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Oncology
ISSN
1574-7891
e-ISSN
1878-0261
Volume of the periodical
17
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
19
Pages from-to
2565-2583
UT code for WoS article
001031068100001
EID of the result in the Scopus database
2-s2.0-85165241758