The consequences of cohesin mutations in myeloid malignancies

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 funct...

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Authors: Bhattacharya, Shubhra Ashish, Dias, Eve, Nieto-Aliseda, Andrea|||0000-0002-3238-8711, Buschbeck, Marcus|||0000-0002-3218-4567
Format: article
Publication Date:2023
Country:España
Institution:Universitat Autònoma de Barcelona
Repository:Dipòsit Digital de Documents de la UAB
Language:English
OAI Identifier:oai:ddd.uab.cat:289547
Online Access:https://ddd.uab.cat/record/289547
https://dx.doi.org/urn:doi:10.3389/fmolb.2023.1319804
Access Level:Open access
Keyword:Cohesin
STAG2, chromatin
Myelodysplastic syndromes
Acute myeloid leukemia
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spelling The consequences of cohesin mutations in myeloid malignanciesBhattacharya, Shubhra AshishDias, EveNieto-Aliseda, Andrea|||0000-0002-3238-8711Buschbeck, Marcus|||0000-0002-3218-4567CohesinSTAG2, chromatinMyelodysplastic syndromesAcute myeloid leukemiaRecurrent 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. 22023-01-0120232023-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/289547https://dx.doi.org/urn:doi:10.3389/fmolb.2023.1319804reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengFundació la Marató de TV3 https://doi.org/10.13039/100008666 257/C/2019Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2021/SGR-260Agencia Estatal de Investigación https://doi.org/10.13039/501100011033 2021-126907NB-I00European Commission https://doi.org/10.13039/501100000780 953407open accesshttp://purl.org/coar/access_right/c_abf2Aquest 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.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2895472026-06-06T12:50:31Z
dc.title.none.fl_str_mv The consequences of cohesin mutations in myeloid malignancies
title The consequences of cohesin mutations in myeloid malignancies
spellingShingle The consequences of cohesin mutations in myeloid malignancies
Bhattacharya, Shubhra Ashish
Cohesin
STAG2, chromatin
Myelodysplastic syndromes
Acute myeloid leukemia
title_short The consequences of cohesin mutations in myeloid malignancies
title_full The consequences of cohesin mutations in myeloid malignancies
title_fullStr The consequences of cohesin mutations in myeloid malignancies
title_full_unstemmed The consequences of cohesin mutations in myeloid malignancies
title_sort The consequences of cohesin mutations in myeloid malignancies
dc.creator.none.fl_str_mv Bhattacharya, Shubhra Ashish
Dias, Eve
Nieto-Aliseda, Andrea|||0000-0002-3238-8711
Buschbeck, Marcus|||0000-0002-3218-4567
author Bhattacharya, Shubhra Ashish
author_facet Bhattacharya, Shubhra Ashish
Dias, Eve
Nieto-Aliseda, Andrea|||0000-0002-3238-8711
Buschbeck, Marcus|||0000-0002-3218-4567
author_role author
author2 Dias, Eve
Nieto-Aliseda, Andrea|||0000-0002-3238-8711
Buschbeck, Marcus|||0000-0002-3218-4567
author2_role author
author
author
dc.subject.none.fl_str_mv Cohesin
STAG2, chromatin
Myelodysplastic syndromes
Acute myeloid leukemia
topic Cohesin
STAG2, chromatin
Myelodysplastic syndromes
Acute myeloid leukemia
description 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.
publishDate 2023
dc.date.none.fl_str_mv 2
2023-01-01
2023
2023-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/289547
https://dx.doi.org/urn:doi:10.3389/fmolb.2023.1319804
url https://ddd.uab.cat/record/289547
https://dx.doi.org/urn:doi:10.3389/fmolb.2023.1319804
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Fundació la Marató de TV3 https://doi.org/10.13039/100008666 257/C/2019
Agència de Gestió d'Ajuts Universitaris i de Recerca https://doi.org/10.13039/501100003030 2021/SGR-260
Agencia Estatal de Investigación https://doi.org/10.13039/501100011033 2021-126907NB-I00
European Commission https://doi.org/10.13039/501100000780 953407
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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