Histone H3.3 beyond cancer: Germline mutations in


Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
12 2020
Historique:
received: 21 05 2020
accepted: 19 10 2020
entrez: 3 12 2020
pubmed: 4 12 2020
medline: 16 4 2022
Statut: epublish

Résumé

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (

Identifiants

pubmed: 33268356
pii: 6/49/eabc9207
doi: 10.1126/sciadv.abc9207
pmc: PMC7821880
pii:
doi:

Substances chimiques

Forkhead Transcription Factors 0
H3-3A protein, human 0
Histones 0
Zebrafish Proteins 0
foxd3 protein, zebrafish 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NIGMS NIH HHS
ID : T32 GM008275
Pays : United States
Organisme : NIDCR NIH HHS
ID : R35 DE027550
Pays : United States
Organisme : NICHD NIH HHS
ID : K12 HD043245
Pays : United States
Organisme : NIDDK NIH HHS
ID : T35 DK093430
Pays : United States
Organisme : NICHD NIH HHS
ID : T32 HD07466
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS058721
Pays : United States
Organisme : NCI NIH HHS
ID : P01 CA196539
Pays : United States
Organisme : NIGMS NIH HHS
ID : GM110174
Pays : United States

Informations de copyright

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).

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Auteurs

Laura Bryant (L)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Dong Li (D)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Samuel G Cox (SG)

Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.

Dylan Marchione (D)

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

Evan F Joiner (EF)

Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

Khadija Wilson (K)

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

Kevin Janssen (K)

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

Pearl Lee (P)

Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Michael E March (ME)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Divya Nair (D)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Elliott Sherr (E)

Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.

Brieana Fregeau (B)

Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.

Klaas J Wierenga (KJ)

Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.

Alexandrea Wadley (A)

Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.

Grazia M S Mancini (GMS)

Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.

Nina Powell-Hamilton (N)

Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA.

Jiddeke van de Kamp (J)

Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.

Theresa Grebe (T)

Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.

John Dean (J)

Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.

Alison Ross (A)

Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.

Heather P Crawford (HP)

Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA.

Zoe Powis (Z)

Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA.

Megan T Cho (MT)

GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.

Marcia C Willing (MC)

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.

Linda Manwaring (L)

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.

Rachel Schot (R)

Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.

Caroline Nava (C)

Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.
AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.

Alexandra Afenjar (A)

Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France.

Davor Lessel (D)

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany.

Matias Wagner (M)

Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Institut für Humangenetik, Technische Universität München, Munich, Germany.

Thomas Klopstock (T)

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.
German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.

Juliane Winkelmann (J)

Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
Institut für Humangenetik, Technische Universität München, Munich, Germany.
Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

Claudia B Catarino (CB)

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.

Kyle Retterer (K)

GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.

Jane L Schuette (JL)

Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

Jeffrey W Innis (JW)

Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

Amy Pizzino (A)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.

Sabine Lüttgen (S)

Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.

Jonas Denecke (J)

Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.

Tim M Strom (TM)

Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
Institut für Humangenetik, Technische Universität München, Munich, Germany.

Kristin G Monaghan (KG)

GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.

Zuo-Fei Yuan (ZF)

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

Holly Dubbs (H)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.

Renee Bend (R)

Greenwood Genetic Center, Greenwood, SC 29646, USA.

Jennifer A Lee (JA)

Greenwood Genetic Center, Greenwood, SC 29646, USA.

Michael J Lyons (MJ)

Greenwood Genetic Center, Greenwood, SC 29646, USA.

Julia Hoefele (J)

Institut für Humangenetik, Technische Universität München, Munich, Germany.

Roman Günthner (R)

Department of Nephrology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.
Institute of Human Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.

Heiko Reutter (H)

Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

Boris Keren (B)

AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.

Kelly Radtke (K)

Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.

Omar Sherbini (O)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.

Cameron Mrokse (C)

Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.

Katherine L Helbig (KL)

Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.

Sylvie Odent (S)

CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France.

Benjamin Cogne (B)

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.

Sandra Mercier (S)

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.

Stephane Bezieau (S)

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.

Thomas Besnard (T)

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.

Sebastien Kury (S)

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.

Richard Redon (R)

INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.

Karit Reinson (K)

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Monica H Wojcik (MH)

Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Broad Institute, Cambridge, MA 02142, USA.

Katrin Õunap (K)

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

Pilvi Ilves (P)

Radiology Department of Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

A Micheil Innes (AM)

Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Kristin D Kernohan (KD)

Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H8L1, Canada.
Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Gregory Costain (G)

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.

M Stephen Meyn (MS)

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA.

David Chitayat (D)

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.

Elaine Zackai (E)

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Anna Lehman (A)

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

Hilary Kitson (H)

Department of Pediatrics, University of British Columbia, Vancouver, Canada.

Martin G Martin (MG)

Division of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children's Hospital, Los Angeles, CA 90095, USA.
Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Julian A Martinez-Agosto (JA)

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Stan F Nelson (SF)

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Christina G S Palmer (CGS)

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Jeanette C Papp (JC)

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Neil H Parker (NH)

David Geffen School of Medicine, Los Angeles, CA 90095, USA.

Janet S Sinsheimer (JS)

Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Eric Vilain (E)

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA.

Jijun Wan (J)

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Amanda J Yoon (AJ)

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Allison Zheng (A)

Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.

Elise Brimble (E)

Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA.

Giovanni Battista Ferrero (GB)

Department of Public Health and Pediatrics, University of Torino, Turin, Italy.

Francesca Clementina Radio (FC)

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

Diana Carli (D)

Department of Public Health and Pediatrics, University of Torino, Turin, Italy.

Sabina Barresi (S)

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

Alfredo Brusco (A)

Department of Medical Sciences, University of Torino, Turin, Italy.

Marco Tartaglia (M)

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

Jennifer Muncy Thomas (JM)

Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA.

Luis Umana (L)

Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.

Marjan M Weiss (MM)

Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.

Garrett Gotway (G)

Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.

K E Stuurman (KE)

Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.

Michelle L Thompson (ML)

HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.

Kirsty McWalter (K)

GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.

Constance T R M Stumpel (CTRM)

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.

Servi J C Stevens (SJC)

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.

Alexander P A Stegmann (APA)

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.

Kristian Tveten (K)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.

Arve Vøllo (A)

Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway.

Trine Prescott (T)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.

Christina Fagerberg (C)

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Lone Walentin Laulund (LW)

H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.

Martin J Larsen (MJ)

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Melissa Byler (M)

SUNY Upstate Medical University, Syracuse, NY 13210, USA.

Robert Roger Lebel (RR)

SUNY Upstate Medical University, Syracuse, NY 13210, USA.

Anna C Hurst (AC)

University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Joy Dean (J)

University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Samantha A Schrier Vergano (SA)

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA.

Jennifer Norman (J)

INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA.

Saadet Mercimek-Andrews (S)

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.

Juanita Neira (J)

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

Margot I Van Allen (MI)

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada.

Nicola Longo (N)

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.

Elizabeth Sellars (E)

University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.

Raymond J Louie (RJ)

Greenwood Genetic Center, Greenwood, SC 29646, USA.

Sara S Cathey (SS)

Greenwood Genetic Center, Greenwood, SC 29646, USA.

Elly Brokamp (E)

Vanderbilt University, Nashville, TN 37203, USA.

Delphine Heron (D)

AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.

Molly Snyder (M)

Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA.

Adeline Vanderver (A)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.

Celeste Simon (C)

Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.

Xavier de la Cruz (X)

Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

Natália Padilla (N)

Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.

J Gage Crump (JG)

Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.

Wendy Chung (W)

Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.

Benjamin Garcia (B)

Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.
Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Hakon H Hakonarson (HH)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Elizabeth J Bhoj (EJ)

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bhoje@email.chop.edu.

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