Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency

GATA2 deficiency is a complex multi-system disorder with high risk of developing myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) with a nearly complete lifetime penetrance1, 2. GATA2 carriers show a highly variable expressivity, with some individuals developing early-onset MDS, whil...

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Autores: Marin-Bejar, Oskar, Romero Moya, Damià, Rodríguez Ubreva, Javier, Distefano, Maximiliano, Lessi, Francesca, Aretini, Paolo, Liquori, Alessandro, Castaño, Julio, Kozyra, Emilia, Kotmayer, Lili, Bueno, Clara, Cervera, José, Rodriguez-Gallego, José Carlos, Nomdedéu Guinot, Josep Francesc, Murillo-Sanjuán, Laura, Díaz de Heredia, Cristina, Pérez-Martínez, Antonio, López-Cardenas, Félix, Martínez-Laperche, Carolina, Dorado-Herrero, Nieves, Marco, Francisco M., Prósper, Felipe, Menéndez Buján, Pablo, Valcárcel, David, Ballestar Tarín, Esteban, Bödör, Csaba, Bigas Salvans, Anna, Català, Albert, Wlodarski, Marcin W, Giorgetti, Alessandra
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/193572
Acceso en línea:https://hdl.handle.net/2445/193572
Access Level:acceso abierto
Palabra clave:Leucèmia mieloide
Mutació (Biologia)
Epigenètica
Myeloid leukemia
Mutation (Biology)
Epigenetics
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spelling Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiencyMarin-Bejar, OskarRomero Moya, DamiàRodríguez Ubreva, JavierDistefano, MaximilianoLessi, FrancescaAretini, PaoloLiquori, AlessandroCastaño, JulioKozyra, EmiliaKotmayer, LiliBueno, ClaraCervera, JoséRodriguez-Gallego, José CarlosNomdedéu Guinot, Josep FrancescMurillo-Sanjuán, LauraDíaz de Heredia, CristinaPérez-Martínez, AntonioLópez-Cardenas, FélixMartínez-Laperche, CarolinaDorado-Herrero, NievesMarco, Francisco M.Prósper, FelipeMenéndez Buján, PabloValcárcel, DavidBallestar Tarín, EstebanBödör, CsabaBigas Salvans, AnnaCatalà, AlbertWlodarski, Marcin WGiorgetti, AlessandraLeucèmia mieloideMutació (Biologia)EpigenèticaMyeloid leukemiaMutation (Biology)EpigeneticsGATA2 deficiency is a complex multi-system disorder with high risk of developing myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) with a nearly complete lifetime penetrance1, 2. GATA2 carriers show a highly variable expressivity, with some individuals developing early-onset MDS, while others, remaining asymptomatic throughout life. Although no prognostic biomarkers exist, it is likely that both cooperating genetic and epigenetic drivers shape the course of the disease3. Despite advances in the identification of recurrent somatic mutations in a set of leukemia driver genes (i.e. STAG2, SETBP1, ASXL1 and ETV6), there are major gaps in understanding the molecular mechanisms associated with leukemic progression in GATA2 carriers4. Moreover, DNA methylation alterations contribute to the initiation and expansion of leukemic clones and aberrant hypermethylation occurs in adult patients with MDS and AML5, 6. However, to date, a genome-wide DNA methylome analysis in GATA2 patients has not been performed.Ferrata Storti Foundation2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/193572Articles publicats en revistes (Patologia i Terapèutica Experimental)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a:Haematologica, 2023(c) Ferrata Storti Foundation, 2023info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1935722026-05-27T06:46:51Z
dc.title.none.fl_str_mv Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
title Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
spellingShingle Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
Marin-Bejar, Oskar
Leucèmia mieloide
Mutació (Biologia)
Epigenètica
Myeloid leukemia
Mutation (Biology)
Epigenetics
title_short Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
title_full Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
title_fullStr Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
title_full_unstemmed Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
title_sort Epigenome profiling reveals an aberrant DNA methylation signature in GATA2 deficiency
dc.creator.none.fl_str_mv Marin-Bejar, Oskar
Romero Moya, Damià
Rodríguez Ubreva, Javier
Distefano, Maximiliano
Lessi, Francesca
Aretini, Paolo
Liquori, Alessandro
Castaño, Julio
Kozyra, Emilia
Kotmayer, Lili
Bueno, Clara
Cervera, José
Rodriguez-Gallego, José Carlos
Nomdedéu Guinot, Josep Francesc
Murillo-Sanjuán, Laura
Díaz de Heredia, Cristina
Pérez-Martínez, Antonio
López-Cardenas, Félix
Martínez-Laperche, Carolina
Dorado-Herrero, Nieves
Marco, Francisco M.
Prósper, Felipe
Menéndez Buján, Pablo
Valcárcel, David
Ballestar Tarín, Esteban
Bödör, Csaba
Bigas Salvans, Anna
Català, Albert
Wlodarski, Marcin W
Giorgetti, Alessandra
author Marin-Bejar, Oskar
author_facet Marin-Bejar, Oskar
Romero Moya, Damià
Rodríguez Ubreva, Javier
Distefano, Maximiliano
Lessi, Francesca
Aretini, Paolo
Liquori, Alessandro
Castaño, Julio
Kozyra, Emilia
Kotmayer, Lili
Bueno, Clara
Cervera, José
Rodriguez-Gallego, José Carlos
Nomdedéu Guinot, Josep Francesc
Murillo-Sanjuán, Laura
Díaz de Heredia, Cristina
Pérez-Martínez, Antonio
López-Cardenas, Félix
Martínez-Laperche, Carolina
Dorado-Herrero, Nieves
Marco, Francisco M.
Prósper, Felipe
Menéndez Buján, Pablo
Valcárcel, David
Ballestar Tarín, Esteban
Bödör, Csaba
Bigas Salvans, Anna
Català, Albert
Wlodarski, Marcin W
Giorgetti, Alessandra
author_role author
author2 Romero Moya, Damià
Rodríguez Ubreva, Javier
Distefano, Maximiliano
Lessi, Francesca
Aretini, Paolo
Liquori, Alessandro
Castaño, Julio
Kozyra, Emilia
Kotmayer, Lili
Bueno, Clara
Cervera, José
Rodriguez-Gallego, José Carlos
Nomdedéu Guinot, Josep Francesc
Murillo-Sanjuán, Laura
Díaz de Heredia, Cristina
Pérez-Martínez, Antonio
López-Cardenas, Félix
Martínez-Laperche, Carolina
Dorado-Herrero, Nieves
Marco, Francisco M.
Prósper, Felipe
Menéndez Buján, Pablo
Valcárcel, David
Ballestar Tarín, Esteban
Bödör, Csaba
Bigas Salvans, Anna
Català, Albert
Wlodarski, Marcin W
Giorgetti, Alessandra
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Leucèmia mieloide
Mutació (Biologia)
Epigenètica
Myeloid leukemia
Mutation (Biology)
Epigenetics
topic Leucèmia mieloide
Mutació (Biologia)
Epigenètica
Myeloid leukemia
Mutation (Biology)
Epigenetics
description GATA2 deficiency is a complex multi-system disorder with high risk of developing myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) with a nearly complete lifetime penetrance1, 2. GATA2 carriers show a highly variable expressivity, with some individuals developing early-onset MDS, while others, remaining asymptomatic throughout life. Although no prognostic biomarkers exist, it is likely that both cooperating genetic and epigenetic drivers shape the course of the disease3. Despite advances in the identification of recurrent somatic mutations in a set of leukemia driver genes (i.e. STAG2, SETBP1, ASXL1 and ETV6), there are major gaps in understanding the molecular mechanisms associated with leukemic progression in GATA2 carriers4. Moreover, DNA methylation alterations contribute to the initiation and expansion of leukemic clones and aberrant hypermethylation occurs in adult patients with MDS and AML5, 6. However, to date, a genome-wide DNA methylome analysis in GATA2 patients has not been performed.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/193572
url https://hdl.handle.net/2445/193572
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a:
Haematologica, 2023
dc.rights.none.fl_str_mv (c) Ferrata Storti Foundation, 2023
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Ferrata Storti Foundation, 2023
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Ferrata Storti Foundation
publisher.none.fl_str_mv Ferrata Storti Foundation
dc.source.none.fl_str_mv Articles publicats en revistes (Patologia i Terapèutica Experimental)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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