Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency

Oskar Marin-Bejar; Damia Romero-Moya; Javier Rodriguez-Ubreva; Maximiliano Distefano; Francesca Lessi; Paolo Aretini; Alessandro Liquori; Julio Castaño; Emilia Kozyra; Lili Kotmayer; Clara Bueno; José Cervera; José Carlos Rodriguez-Gallego; Josep F Nomdedeu; Laura Murillo-Sanjuán; Cristina Díaz De Heredia; Antonio Pérez-Martinez; Félix López-Cadenas; Carolina Martínez-Laperche; Nieves Dorado-Herrero; Francisco M Marco; Felipe Prósper; Pablo Menendez; David Valcárcel; Esteban Ballestar; Csaba Bödör; Anna Bigas; Albert Catalá; Marcin W Wlodarski; Alessandra Giorgetti

doi:10.3324/haematol.2022.282305

Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency

Haematologica. 2023 Sep 1;108(9):2551-2557. doi: 10.3324/haematol.2022.282305.

Authors

Oskar Marin-Bejar¹, Damia Romero-Moya², Javier Rodriguez-Ubreva³, Maximiliano Distefano⁴, Francesca Lessi⁵, Paolo Aretini⁵, Alessandro Liquori⁶, Julio Castaño⁷, Emilia Kozyra⁸, Lili Kotmayer⁹, Clara Bueno¹⁰, José Cervera¹¹, José Carlos Rodriguez-Gallego¹², Josep F Nomdedeu¹³, Laura Murillo-Sanjuán¹⁴, Cristina Díaz De Heredia¹⁴, Antonio Pérez-Martinez¹⁵, Félix López-Cadenas¹⁶, Carolina Martínez-Laperche¹⁷, Nieves Dorado-Herrero¹⁷, Francisco M Marco¹⁸, Felipe Prósper¹⁹, Pablo Menendez²⁰, David Valcárcel²¹, Esteban Ballestar²², Csaba Bödör⁹, Anna Bigas²³, Albert Catalá²⁴, Marcin W Wlodarski²⁵, Alessandra Giorgetti²⁶

Affiliations

¹ Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), Barcelona. omarin@idibell.cat.
² Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), Barcelona.
³ Epigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Barcelona.
⁴ Department of Hematology and Oncology, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona.
⁵ Fondazione Pisana Per la Scienza ONLUS (FPS), San Giuliano Terme.
⁶ Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Oncología (CIBERONC), Instituto de Salud Carlos III, Madrid.
⁷ Advanced and Cell Therapy Services. Banc de Sang i Teixits, Barcelona.
⁸ Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine; Faculty of Biology, University of Freiburg, Freiburg.
⁹ HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University. Budapest, Hungary.
¹⁰ Josep Carreras Leukaemia Research Institute. Department of Biomedicine. School of Medicine, University of Barcelona, Barcelona.
¹¹ Hematology Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Oncología (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia.
¹² Department of Immunology, University Hospital of Gran Canaria Dr. Negrin, Canarian Health System, Las Palmas de Gran Canaria, Spain; Department of Clinical Sciences, University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain; Department of Medical and Surgical Sciences, School of Medicine, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria.
¹³ Servei d'Hematologia Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, IIB Sant Pau/Josep Carreras Leukaemia Research Institute (IJC), Barcelona.
¹⁴ Pediatric Hematology and Oncology Division, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca, Barcelona.
¹⁵ Pediatric Department, Universidad Autonoma de Madrid, Madrid, Spain; Hospital La Paz Institute for Health Research, Madrid, Spain; Pediatric Hemato-Oncology Department, University Hospital La Paz, Madrid.
¹⁶ Servicio de Hematología Hospital Clínico Universitario de Salamanca, salamanca, Spain; Instituto Biosanitario de Salamanca (IBSAL). Salamanca.
¹⁷ Servicio de Hematología, Hospital General Universitario Gregorio Marañón. Instituto de Investigación Sanitaria Gregorio Marañón, Madrid.
¹⁸ Immunology Department, Dr. Balmis General University Hospital; Institute for Health and Biomedical Research (ISABIAL), Alicante.
¹⁹ Centro de Investigación Biomédica en Red de Oncología (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain; Area de Hemato-Oncología, CIMA Universidad de Navarra, Instituto de Investigación Sanitaria de Navarra (IDISNA), Pamplona, Spain; Servicio de Hematologia, CCUN, Clínica Universidad de Navarra, Universidad de Navarra, Pamplona.
²⁰ Centro de Investigación Biomédica en Red de Oncología (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain; Josep Carreras Leukaemia Research Institute. Department of Biomedicine. School of Medicine, University of Barcelona, Barcelona, Spain; Red Española de Terapias Avanzadas (TERAV) - Instituto de Salud Carlos III, Madrid, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona.
²¹ Servei d'Hematologia, Vall d'Hebron Hospital Universitari; Experimental Hematology, Vall d'Hebron Institute of Oncology (VHIO); Departament de Medicina, Universitat Autònoma de Barcelona, Barcelona.
²² Epigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Barcelona, Spain; Epigenetics in Inflammatory and Metabolic Diseases Laboratory, Health Science Center (HSC), East China Normal University (ECNU), Shanghai.
²³ Centro de Investigación Biomédica en Red de Oncología (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain; Programa de Investigación en Cáncer, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain; Josep Carreras Leukaemia Research Institute (IJC), Barcelona.
²⁴ Department of Hematology and Oncology, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid.
²⁵ Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN.
²⁶ Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), Barcelona, Spain; Fondazione Pisana Per la Scienza ONLUS (FPS), San Giuliano Terme, Italy; Department of Pathology and Experimental Therapeutics, Faculty of Medicine and Health Sciences, Barcelona University, Barcelona. agiorgetti@idibell.cat.

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Letter

MeSH terms

DNA Methylation*
Epigenome*
GATA2 Deficiency* / genetics
GATA2 Transcription Factor / genetics
GATA2 Transcription Factor / metabolism
Humans

Substances

GATA2 protein, human
GATA2 Transcription Factor

Grants and funding

Funding: This work was supported by ERA PerMed GATA2-HuMo Funding Mechanism in Spain: Acció instrumental de SLT011/18/00006 of the Department of Health of the Government of Catalonia to AG and AB; in Hungary: ED-18-1-2019-001 grant from the National Research, Development and Innovation Office to CB; and in Germany: German Federal Ministry of Education and Research (BMBF) 2018-123/01KU1904 to MWW.ÚNKP-21-2-I-SE-21 and Hungarian National Academy of Scientist Education grant to KL, TKP2021-NVA-15. TKP2021-EGA-24 and EU's Horizon 2020 research and innovation program under grant agreement no. 739593 and Elixir Hungary to CB. The Spanish Ministry of Economy, Industry, CERCA/Generalitat de Catalunya and Fundació Josep Carreras-Obra Social la Caixa and the Deutsche Josep Carreras Leukämie-Stiftung (DJCLS15R/2021) to PM: Asociación Española contra el cancer (AECC, PRYGN211192BUEN) and Health Institute Carlos III (PI20/00822) to CB. Competitiveness (MINECO PID2020-15591RB-100), La Marató de TV3 (202001-32), FPS Grant 2018 by Fondazione Pisana per la Scienza ONLUS and CERCA Programme/ Generalitat de Catalunya for institutional support to AG, and BMBF MyPred 01GM1911A to MWW. OM-B Is supported by 101029927-scGATA2track (H2020-MSCA-IF-2020) and KOG-202109-01162. AL is the recipient of the APOSTD2021/212 fellowship from the Generalitat Valenciana. Funding for this project was provided in part by an EHA Research Grant award granted by the European Hematology Association (KOG-202109-01162). This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 101029927. We thank CERCA Programme / Generalitat de Catalunya for institutional support.