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| Pàgina inicial > Articles > Articles publicats > The consequences of cohesin mutations in myeloid malignancies |
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)| Data: | 2023 |
| Resum: | Recurrent somatic mutations in the genes encoding the chromatin-regulatory cohesin complex and its modulators occur in a wide range of human malignancies including a high frequency in myeloid neoplasms. The cohesin complex has a ring-like structure which can enclose two strands of DNA. A first function for the complex was described in sister chromatid cohesion during metaphase avoiding defects in chromosome segregation. Later studies identified additional functions of the cohesin complex functions in DNA replication, DNA damage response, 3D genome organisation, and transcriptional regulation through chromatin looping. In this review, we will focus on STAG2 which is the most frequently mutated cohesin subunit in myeloid malignancies. STAG2 loss of function mutations are not associated with chromosomal aneuploidies or genomic instability. We hypothesize that this points to changes in gene expression as disease-promoting mechanism and summarize the current state of knowledge on affected genes and pathways. Finally, we discuss potential strategies for targeting cohesion-deficient disease cells. |
| Ajuts: | Fundació la Marató de TV3 257/C/2019 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-260 Agencia Estatal de Investigación 2021-126907NB-I00 European Commission 953407 |
| Nota: | The author(s) declare financial support was received for the research, authorship, and/or publication of this article. SB and ED are funded by the Marie Skłodowska Curie Training network 'INTERCEPT-MDS' H2020-MSCA-ITN-2020-953407. Research in the Buschbeck lab is further supported by the following grants: the national grant PID 2021-126907NB-I00 from FEDER/Ministerio de Ciencia e Innovación-Agencia Estatal de Investigación, AGAUR 2021-SGR-260, Fundació La Marató de TV3 257/C/2019 and PRYGN222668BUSC from the Fundación AECC. Research at the IJC is supported by the 'La Caixa' Foundation, the Fundació Internacional Josep Carreras, Celgene Spain and the CERCA Programme/Generalitat de Catalunya. |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Cohesin ; STAG2, chromatin ; Myelodysplastic syndromes ; Acute myeloid leukemia |
| Publicat a: | Frontiers in Molecular Biosciences, Vol. 10 (2023) , p. 1319804, ISSN 2296-889X |
