Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis.


Journal

Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066

Informations de publication

Date de publication:
10 12 2020
Historique:
received: 29 07 2020
revised: 01 10 2020
accepted: 06 11 2020
pubmed: 2 12 2020
medline: 19 5 2021
entrez: 1 12 2020
Statut: ppublish

Résumé

Histone H3.3 glycine 34 to arginine/valine (G34R/V) mutations drive deadly gliomas and show exquisite regional and temporal specificity, suggesting a developmental context permissive to their effects. Here we show that 50% of G34R/V tumors (n = 95) bear activating PDGFRA mutations that display strong selection pressure at recurrence. Although considered gliomas, G34R/V tumors actually arise in GSX2/DLX-expressing interneuron progenitors, where G34R/V mutations impair neuronal differentiation. The lineage of origin may facilitate PDGFRA co-option through a chromatin loop connecting PDGFRA to GSX2 regulatory elements, promoting PDGFRA overexpression and mutation. At the single-cell level, G34R/V tumors harbor dual neuronal/astroglial identity and lack oligodendroglial programs, actively repressed by GSX2/DLX-mediated cell fate specification. G34R/V may become dispensable for tumor maintenance, whereas mutant-PDGFRA is potently oncogenic. Collectively, our results open novel research avenues in deadly tumors. G34R/V gliomas are neuronal malignancies where interneuron progenitors are stalled in differentiation by G34R/V mutations and malignant gliogenesis is promoted by co-option of a potentially targetable pathway, PDGFRA signaling.

Identifiants

pubmed: 33259802
pii: S0092-8674(20)31529-4
doi: 10.1016/j.cell.2020.11.012
pmc: PMC7791404
mid: NIHMS1656227
pii:
doi:

Substances chimiques

Chromatin 0
Histones 0
Receptor, Platelet-Derived Growth Factor alpha EC 2.7.10.1
Lysine K3Z4F929H6

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

1617-1633.e22

Subventions

Organisme : CIHR
ID : PJT-156086
Pays : Canada
Organisme : CIHR
ID : FDN-154307
Pays : Canada
Organisme : NCRR NIH HHS
ID : P41 RR000862
Pays : United States
Organisme : CIHR
ID : MOP-286756
Pays : Canada
Organisme : Medical Research Council
ID : MR/M00094X/1
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R00 CA201592
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA219943
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA165962
Pays : United States
Organisme : NCI NIH HHS
ID : P01 CA196539
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA159859
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA215489
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA148699
Pays : United States

Informations de copyright

Crown Copyright © 2020. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Interests P.B. and R.B. receive grant funding from the Novartis Institute of Biomedical Research for an unrelated project. J.R.H. has received compensation for consultation from Bayer for unrelated work.

Références

Nucleic Acids Res. 2018 Jan 4;46(D1):D794-D801
pubmed: 29126249
Bioinformatics. 2012 Jul 15;28(14):1811-7
pubmed: 22581179
J Neurosci Methods. 2012 Jun 15;207(2):172-80
pubmed: 22521325
Bioinformatics. 2012 Feb 1;28(3):311-7
pubmed: 22155872
Nature. 2019 Aug;572(7767):67-73
pubmed: 31043743
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Cell. 2016 Feb 25;164(5):1060-1072
pubmed: 26919435
Oncotarget. 2016 Oct 4;7(40):65696-65706
pubmed: 27582545
J Neurooncol. 2013 Mar;112(1):67-72
pubmed: 23354654
Bioinformatics. 2014 Apr 1;30(7):923-30
pubmed: 24227677
Cancer Res. 2013 Oct 15;73(20):6219-29
pubmed: 23970477
Cell. 2015 May 21;161(5):1202-1214
pubmed: 26000488
Mol Cell. 2011 May 6;42(3):330-41
pubmed: 21549310
Nature. 2014 Apr 10;508(7495):263-8
pubmed: 24590075
Nat Neurosci. 2013 Nov;16(11):1588-97
pubmed: 24097041
Nat Genet. 2014 May;46(5):444-450
pubmed: 24705251
Cell. 2014 Dec 18;159(7):1665-80
pubmed: 25497547
Cell. 2013 Feb 14;152(4):895-908
pubmed: 23375746
Nat Biotechnol. 2013 Mar;31(3):213-9
pubmed: 23396013
Science. 2013 May 17;340(6134):857-61
pubmed: 23539183
Nature. 2016 Jan 7;529(7584):110-4
pubmed: 26700815
Nat Genet. 2020 Mar;52(3):264-272
pubmed: 32094912
Cancer Cell. 2010 Jan 19;17(1):98-110
pubmed: 20129251
Nucleic Acids Res. 2006 Jan 1;34(Database issue):D108-10
pubmed: 16381825
Structure. 2017 Feb 7;25(2):341-352
pubmed: 28111021
Science. 2017 Mar 31;355(6332):
pubmed: 28360267
Sci Rep. 2017 Mar 03;7:43906
pubmed: 28256625
J Clin Oncol. 2003 Dec 1;21(23):4342-9
pubmed: 14645423
Methods Enzymol. 2016;574:3-29
pubmed: 27423855
Nat Commun. 2018 Nov 2;9(1):4583
pubmed: 30389923
Nat Genet. 2019 Dec;51(12):1702-1713
pubmed: 31768071
Bioinformatics. 2010 Sep 1;26(17):2071-5
pubmed: 20663846
Cell Rep. 2020 Mar 3;30(9):3051-3066.e7
pubmed: 32130906
Cell Rep. 2019 Jan 8;26(2):394-406.e5
pubmed: 30625322
Bioinformatics. 2014 Aug 1;30(15):2114-20
pubmed: 24695404
Genome Biol. 2014;15(12):550
pubmed: 25516281
Science. 2008 Sep 26;321(5897):1807-12
pubmed: 18772396
Acta Neuropathol. 2012 Nov;124(5):615-25
pubmed: 22886134
Nat Methods. 2017 Mar;14(3):309-315
pubmed: 28114287
Bioinformatics. 2020 Jan 15;36(2):533-538
pubmed: 31359028
Gigascience. 2019 Jun 1;8(6):
pubmed: 31185495
Nat Methods. 2017 Oct;14(10):979-982
pubmed: 28825705
Nat Genet. 2014 Aug;46(8):912-918
pubmed: 25017105
Genome Biol. 2013 Aug 29;14(8):R90
pubmed: 23987214
Cancer Cell. 2017 Oct 9;32(4):520-537.e5
pubmed: 28966033
Genes Dev. 2013 Jun 1;27(11):1272-87
pubmed: 23723414
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Nat Genet. 2012 Jan 29;44(3):251-3
pubmed: 22286216
Cancer Cell. 2012 Oct 16;22(4):425-37
pubmed: 23079654
Acta Neuropathol. 2014 Nov;128(5):615-27
pubmed: 25077668
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Nature. 2019 Oct;574(7780):707-711
pubmed: 31664194
Nat Biotechnol. 2018 Jun;36(5):411-420
pubmed: 29608179
Nat Genet. 2020 Apr;52(4):388-400
pubmed: 32203470
Cell Syst. 2016 Jul;3(1):99-101
pubmed: 27467250
Dev Biol. 2018 Oct 1;442(1):115-126
pubmed: 29990475
Science. 2017 Dec 8;358(6368):1318-1323
pubmed: 29217575
Nature. 2009 Nov 5;462(7269):108-12
pubmed: 19847166
Genome Biol. 2008;9(9):R137
pubmed: 18798982
Nat Methods. 2012 Mar 04;9(4):357-9
pubmed: 22388286
Cell Rep. 2016 Nov 1;17(6):1683-1698
pubmed: 27806305
Cell Rep. 2019 Aug 20;28(8):2048-2063.e8
pubmed: 31433982
Mol Cell. 2010 May 28;38(4):576-89
pubmed: 20513432
Cell. 2019 Aug 8;178(4):835-849.e21
pubmed: 31327527
Cancer Cell. 2019 Jan 14;35(1):140-155.e7
pubmed: 30595505
Acta Neuropathol. 2016 Jan;131(1):137-46
pubmed: 26482474
Bioinformatics. 2013 Jan 1;29(1):15-21
pubmed: 23104886
Nat Commun. 2019 Mar 19;10(1):1262
pubmed: 30890717
Nat Genet. 2014 May;46(5):462-6
pubmed: 24705250
BMC Bioinformatics. 2013 Jan 16;14:7
pubmed: 23323831
Cell. 2015 Sep 24;163(1):55-67
pubmed: 26406371
Cell. 2019 Jun 13;177(7):1888-1902.e21
pubmed: 31178118
J Neurosci. 2014 Feb 5;34(6):2169-90
pubmed: 24501358
Neuron. 2007 Aug 2;55(3):417-33
pubmed: 17678855
Nat Neurosci. 2013 Nov;16(11):1576-87
pubmed: 24097039
Acta Neuropathol. 2012 Sep;124(3):439-47
pubmed: 22661320
BMC Bioinformatics. 2015;16 Suppl 11:S2
pubmed: 26328469
Science. 2019 May 17;364(6441):685-689
pubmed: 31097668
Nucleic Acids Res. 2013 Apr;41(7):e89
pubmed: 23471004
Nature. 2012 Jan 29;482(7384):226-31
pubmed: 22286061
F1000Res. 2015 Nov 20;4:1310
pubmed: 26835000
Genome Res. 2012 Mar;22(3):568-76
pubmed: 22300766
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Cancer Cell. 2019 May 13;35(5):782-797.e8
pubmed: 31085178
Nat Protoc. 2013 Nov;8(11):2281-2308
pubmed: 24157548
J Vis Exp. 2016 May 17;(111):
pubmed: 27286567
Science. 2018 Apr 20;360(6386):331-335
pubmed: 29674595
Cell. 2017 Oct 19;171(3):557-572.e24
pubmed: 29053968
Bioinformatics. 2010 Mar 15;26(6):841-2
pubmed: 20110278
BMC Genomics. 2013 May 04;14:302
pubmed: 23642077
Brief Bioinform. 2013 Mar;14(2):178-92
pubmed: 22517427
Cancer Cell. 2017 Nov 13;32(5):684-700.e9
pubmed: 29107533
Genome Biol. 2020 Jan 14;21(1):11
pubmed: 31937349
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067
pubmed: 29165669
Cereb Cortex. 2018 Jun 1;28(6):1946-1958
pubmed: 28449024
Acta Neuropathol. 2013 May;125(5):659-69
pubmed: 23417712
Proc Natl Acad Sci U S A. 2010 Jun 22;107(25):11307-12
pubmed: 20534510
Development. 2013 Jun;140(11):2289-98
pubmed: 23637331

Auteurs

Carol C L Chen (CCL)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Shriya Deshmukh (S)

Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, QC H4A 3J1, Canada.

Selin Jessa (S)

Quantitative Life Sciences, McGill University, Montreal, QC H3A 2A7, Canada; Lady Davis Research Institute, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.

Djihad Hadjadj (D)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Véronique Lisi (V)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Augusto Faria Andrade (AF)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Damien Faury (D)

Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

Wajih Jawhar (W)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Rola Dali (R)

Canadian Centre for Computational Genomics, McGill University, Montreal, QC H3A 0E9, Canada.

Hiromichi Suzuki (H)

Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Manav Pathania (M)

Department of Oncology and The Milner Institute, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge CB2 0AW, UK; CRUK Children's Brain Tumour Centre of Excellence, University of Cambridge, Cambridge CB2 0RE, UK.

Deli A (D)

Nuclear Function in CNS Pathophysiology, German Center for Neurodegenerative Diseases (DZNE), Bonn 53127, Germany.

Frank Dubois (F)

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, 02215, USA.

Eleanor Woodward (E)

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, 02215, USA.

Steven Hébert (S)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Lady Davis Research Institute, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.

Marie Coutelier (M)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Lady Davis Research Institute, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.

Jason Karamchandani (J)

Department of Pathology, Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.

Steffen Albrecht (S)

Department of Pathology, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

Sebastian Brandner (S)

UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

Nicolas De Jay (N)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Lady Davis Research Institute, Jewish General Hospital, Montreal, QC H3T 1E2, Canada.

Tenzin Gayden (T)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Andrea Bajic (A)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Ashot S Harutyunyan (AS)

Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

Dylan M Marchione (DM)

Department of Biochemistry and Biophysics and Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-6073, USA.

Leonie G Mikael (LG)

Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

Nikoleta Juretic (N)

Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

Michele Zeinieh (M)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.

Caterina Russo (C)

Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

Nicola Maestro (N)

Department of Oncology and The Milner Institute, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge CB2 0AW, UK.

Angelia V Bassenden (AV)

Department of Biochemistry, McGill University, Montreal, QC H3A 1A3, Canada.

Peter Hauser (P)

Second Department of Paediatrics, Semmelweis University, Budapest 1094, Hungary.

József Virga (J)

Department of Neurosurgery, University of Debrecen, Debrecen 4032, Hungary; Department of Oncology, Faculty of Medicine, University of Debrecen, Debrecen 4032, Hungary.

Laszlo Bognar (L)

Department of Neurosurgery, University of Debrecen, Debrecen 4032, Hungary.

Almos Klekner (A)

Department of Neurosurgery, University of Debrecen, Debrecen 4032, Hungary.

Michal Zapotocky (M)

Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.

Ales Vicha (A)

Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.

Lenka Krskova (L)

Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.

Katerina Vanova (K)

Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.

Josef Zamecnik (J)

Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.

David Sumerauer (D)

Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.

Paul G Ekert (PG)

Children's Cancer Center, The Royal Children's Hospital; Murdoch Children's Research Institute; Department of Pediatrics, University of Melbourne, Parkville, VIC 3052, Australia.

David S Ziegler (DS)

Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW 2031, Australia; School of Women's and Children's Health, UNSW Sydney, Kensington, NSW 2052, Australia.

Benjamin Ellezam (B)

Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada.

Mariella G Filbin (MG)

Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, MA 02215, USA.

Mathieu Blanchette (M)

School of Computer Science, McGill University, Montreal, QC H3A 2A7, Canada.

Jordan R Hansford (JR)

Children's Cancer Center, The Royal Children's Hospital; Murdoch Children's Research Institute; Department of Pediatrics, University of Melbourne, Parkville, VIC 3052, Australia.

Dong-Anh Khuong-Quang (DA)

Children's Cancer Center, The Royal Children's Hospital; and Murdoch Children's Research Institute; Parkville, VIC 3052, Australia.

Albert M Berghuis (AM)

Department of Biochemistry, McGill University, Montreal, QC H3A 1A3, Canada.

Alexander G Weil (AG)

Department of Pediatric Neurosurgery, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada.

Benjamin A Garcia (BA)

Department of Biochemistry and Biophysics and Penn Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-6073, USA.

Livia Garzia (L)

Cancer Research Program, The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada; Division of Orthopedic Surgery, Faculty of Surgery, McGill University, Montreal, QC H3G 1A4, Canada.

Stephen C Mack (SC)

Department of Pediatrics, Division of Hematology and Oncology, Texas Children's Cancer and Hematology Centers, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA.

Rameen Beroukhim (R)

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215-5450, USA; Broad Institute of MIT and Harvard, Boston, MA 02142, USA.

Keith L Ligon (KL)

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215-5450, USA; Department of Pathology, Boston Children's Hospital and Brigham and Women's Hospital, Harvard Medical School, and Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.

Michael D Taylor (MD)

Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Pratiti Bandopadhayay (P)

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, 02215, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215-5450, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.

Christoph Kramm (C)

Division of Pediatric Hematology and Oncology, University Medical Center Goettingen, Goettingen 37075, Germany.

Stefan M Pfister (SM)

Hopp Children's Cancer Center Heidelberg (KiTZ) and Department of Pediatric Oncology, Hematology and Immunology, University Hospital Heidelberg, Heidelberg 69120, Germany; Division of Pediatric Neurooncology, German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg 69120, Germany.

Andrey Korshunov (A)

Department of Neuropathology, Institute of Pathology, University Hospital Heidelberg, Heidelberg 69120, Germany; Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg 69120, Germany.

Dominik Sturm (D)

Division of Pediatric Hematology and Oncology, University Medical Center Goettingen, Goettingen 37075, Germany; Pediatric Glioma Research Group, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.

David T W Jones (DTW)

Clinical Cooperation Unit Neuropathology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg 69120, Germany; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg 69120, Germany.

Paolo Salomoni (P)

Department of Oncology and The Milner Institute, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge CB2 0AW, UK; Nuclear Function in CNS Pathophysiology, German Center for Neurodegenerative Diseases (DZNE), Bonn 53127, Germany.

Claudia L Kleinman (CL)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Lady Davis Research Institute, Jewish General Hospital, Montreal, QC H3T 1E2, Canada. Electronic address: claudia.kleinman@mcgill.ca.

Nada Jabado (N)

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada. Electronic address: nada.jabado@mcgill.ca.

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