Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia.

Animals Antigens, CD34 / metabolism Base Sequence CRISPR-Cas Systems / genetics Cell Differentiation Cell Line Child DNA (Cytosine-5-)-Methyltransferases / genetics DNA Methylation DNA Methyltransferase 3A Epigenesis, Genetic Erythroid Precursor Cells / cytology Female Fetal Hemoglobin / genetics Gene Editing Gene Expression Profiling Humans Male Mice Promoter Regions, Genetic / genetics Repressor Proteins / deficiency Reproducibility of Results Sulfites Whole Genome Sequencing beta-Thalassemia / genetics gamma-Globins / genetics
CD34+ HSPCs ERF GYPA+ cells engraftment mice epigenetics fetal hemoglobin genome editing methylation whole-genome bisulfite sequencing β-thalassemia

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
01 04 2021
Historique:
received: 27 12 2020
accepted: 01 03 2021
pubmed: 19 3 2021
medline: 8 5 2021
entrez: 18 3 2021
Statut: ppublish

Résumé

The fetal-to-adult hemoglobin switch is regulated in a developmental stage-specific manner and reactivation of fetal hemoglobin (HbF) has therapeutic implications for treatment of β-thalassemia and sickle cell anemia, two major global health problems. Although significant progress has been made in our understanding of the molecular mechanism of the fetal-to-adult hemoglobin switch, the mechanism of epigenetic regulation of HbF silencing remains to be fully defined. Here, we performed whole-genome bisulfite sequencing and RNA sequencing analysis of the bone marrow-derived GYPA

Identifiants

DOI: 10.1016/j.ajhg.2021.03.005 PMID: 33735615 PMC: PMC8059375
pubmed: 33735615
pii: S0002-9297(21)00089-6
doi: 10.1016/j.ajhg.2021.03.005
pmc: PMC8059375
pii:
doi:

Substances chimiques

Antigens, CD34 0
DNMT3A protein, human 0
Dnmt3a protein, mouse 0
ERF protein, human 0
Repressor Proteins 0
Sulfites 0
gamma-Globins 0
Fetal Hemoglobin 9034-63-3
DNA (Cytosine-5-)-Methyltransferases EC 2.1.1.37
DNA Methyltransferase 3A EC 2.1.1.37
hydrogen sulfite OJ9787WBLU

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

709-721

Subventions

Organisme : NIDDK NIH HHS
ID : P01 DK032094
Pays : United States

Informations de copyright

Copyright © 2021. Published by Elsevier Inc.

Références

Pediatr Hematol Oncol. 2014 Oct;31(7):583-96
pubmed: 25247665
J Gen Virol. 2003 Jan;84(Pt 1):41-49
pubmed: 12533699
FASEB J. 2014 Apr;28(4):1610-20
pubmed: 24371119
Orphanet J Rare Dis. 2010 May 21;5:11
pubmed: 20492708
Hum Genomics. 2017 Oct 23;11(1):24
pubmed: 29061162
Science. 2018 Jul 20;361(6399):285-290
pubmed: 30026227
Blood. 2019 Feb 21;133(8):852-856
pubmed: 30617196
Cell Res. 2020 Mar;30(3):276-278
pubmed: 31911671
Haematologica. 2015 Apr;100(4):439-51
pubmed: 25552701
Sci Transl Med. 2019 Jul 31;11(503):
pubmed: 31366580
Blood. 2007 Apr 1;109(7):2693-9
pubmed: 17110456
Trends Genet. 2018 Dec;34(12):927-940
pubmed: 30287096
Blood. 2014 Dec 4;124(24):3636-45
pubmed: 25339359
Hematol Oncol Clin North Am. 2018 Apr;32(2):177-191
pubmed: 29458725
Science. 2008 Dec 19;322(5909):1839-42
pubmed: 19056937
Mol Cell Biol. 2017 Sep 12;37(19):
pubmed: 28694332
Oncotarget. 2015 Dec 15;6(40):43033-47
pubmed: 26543232
J Med Genet. 2017 Mar;54(3):157-165
pubmed: 27738187
Nucleic Acids Res. 2019 Jan 8;47(D1):D881-D885
pubmed: 30395307
Expert Rev Hematol. 2016 Dec;9(12):1129-1137
pubmed: 27801605
Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1620-5
pubmed: 18245381
Br J Haematol. 2018 Mar;180(5):630-643
pubmed: 29193029
PLoS One. 2013;8(3):e59890
pubmed: 23533656
Blood. 2017 Aug 10;130(6):803-807
pubmed: 28659276
Nat Genet. 2020 Feb;52(2):138-145
pubmed: 31959994
Stem Cell Reports. 2015 Feb 10;4(2):171-80
pubmed: 25601207
Nat Commun. 2015 May 14;6:7085
pubmed: 25971621
Nucleic Acids Res. 2018 Jan 4;46(D1):D794-D801
pubmed: 29126249
Blood. 2021 Mar 25;137(12):1652-1657
pubmed: 33227819
Cell. 2018 Apr 5;173(2):430-442.e17
pubmed: 29606353
Nat Rev Genet. 2011 Jul 12;12(8):529-41
pubmed: 21747404
Nature. 2012 Sep 6;489(7414):57-74
pubmed: 22955616
Nat Commun. 2017 Jul 11;8:16026
pubmed: 28695892
Blood. 2015 Oct 15;126(16):1930-9
pubmed: 26320100
Nat Genet. 2018 Apr;50(4):498-503
pubmed: 29610478
Proc Natl Acad Sci U S A. 2011 May 3;108(18):7487-92
pubmed: 21490301
Blood. 2014 Jul 31;124(5):803-11
pubmed: 24829204
Am J Hum Genet. 2017 Jul 6;101(1):130-138
pubmed: 28669403
Nat Genet. 2007 Oct;39(10):1197-9
pubmed: 17767159
Nat Med. 2016 Sep;22(9):987-90
pubmed: 27525524
Nat Biotechnol. 2015 Sep;33(9):985-989
pubmed: 26121415
Nat Med. 2019 May;25(5):776-783
pubmed: 30911135
Science. 2016 Jan 15;351(6270):285-9
pubmed: 26816381
Expert Rev Hematol. 2018 Jan;11(1):71-81
pubmed: 29149573
Science. 2013 Feb 15;339(6121):819-23
pubmed: 23287718

Auteurs

Xiuqin Bao (X)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Xinhua Zhang (X)

Department of Hematology, 923(rd) Hospital of the People's Liberation Army, Nanning, Guangxi 530021, China.

Liren Wang (L)

Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai 200241, China.

Zhongju Wang (Z)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Jin Huang (J)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Qianqian Zhang (Q)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Yuhua Ye (Y)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Yongqiong Liu (Y)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Diyu Chen (D)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Yangjin Zuo (Y)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China.

Qifa Liu (Q)

Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Construction and Detection in Tissue Engineering, Guangzhou 510515, China.

Peng Xu (P)

Hematology Center of Cyrus Tang Medical Institute, Soochow University, Suzhou 215123, China.

Binbin Huang (B)

Department 1 of Internal Medicine, Sixth People's Hospital of Nanning, Nanning, Guangxi 530021, China.

Jianpei Fang (J)

Department of Pediatrics, Sun-Yat-Sen Memorial Hospital, Sun-Yat-Sen University, Guangzhou, 510120 Guangdong, China.

Jinquan Lao (J)

Department of Pediatrics, Liuzhou Worker's Hospital, Liuzhou, Guangxi 545005, China.

Xiaoqin Feng (X)

Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, 510515 Guangdong, China.

Yafeng Li (Y)

Department of Nephrology, The Shanxi Provincial People's Hospital, Taiyuan, Shanxi 030012, China; Precision Medicine Center, The Shanxi Provincial People's Hospital, Taiyuan, Shanxi 030012, China.

Ryo Kurita (R)

Department of Research and Development, Central Blood Institute, Japanese Red Cross Society, Shibadaimon, Minato-ku, Tokyo 105-8521, Japan.

Yukio Nakamura (Y)

Cell Engineering Division, RIKEN BioResource Center, Tsukuba, Ibaraki, Japan; Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Weiwei Yu (W)

GemPharmatech Co., Ltd., Nanjing 210000, Jiangsu, China.

Cunxiang Ju (C)

GemPharmatech Co., Ltd., Nanjing 210000, Jiangsu, China.

Chunbo Huang (C)

Guangzhou Huayin Medical Laboratory Center Co., Ltd., Guangzhou, 510663 Guangdong, China; Guangzhou Jiexu Gene Technology Co., Ltd., Guangzhou, 510530 Guangdong, China.

Narla Mohandas (N)

Red Cell Physiology Laboratory, New York Blood Center, New York, NY 10065, USA.

Dali Li (D)

Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai 200241, China.

Cunyou Zhao (C)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China. Electronic address: cyzhao@smu.edu.cn.

Xiangmin Xu (X)

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, 510515 Guangdong, China; Guangdong Engineering and Technology Research Center for Genetic Testing, Guangzhou, 510515 Guangdong, China. Electronic address: gzxuxm@pub.guangzhou.gd.cn.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Antigènes de différenciation › Antigènes CD › Antigènes CD34 › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence nucléotidique › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Extinction de l'expression des gènes › Systèmes CRISPR-Cas › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Différenciation cellulaire › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Cellules › Cellules cultivées › Lignée cellulaire › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › One-carbon group transferases › Methyltransferases › DNA modification methylases › DNA-Cytosine Methylases › DNA (cytosine-5-)-methyltransferase › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Phénomènes génétiques › Méthylation de l'ADN › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › One-carbon group transferases › Methyltransferases › DNA modification methylases › DNA-Cytosine Methylases › DNA (cytosine-5-)-methyltransferase › DNA methyltransferase 3A › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système hématopoïétique › Cellules de la moelle osseuse › Cellules souches hématopoïétiques › Progéniteurs myéloïdes › Progéniteurs érythroïdes et mégacaryocytaires › Précurseurs érythroïdes › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Hémoglobine foetale › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Génie génétique › Édition de gène › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de profil d'expression de gènes › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Éléments de régulation transcriptionnelle › Régions promotrices (génétique) › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Reproductibilité des résultats › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Produits chimiques inorganiques › Sulfites › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Thalassémie › bêta-Thalassémie › Epigenetic inactivation of ERF reactivates...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Sous-unités de l'hémoglobine › Globines bêta › Globines gamma › Epigenetic inactivation of ERF reactivates...