Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.

Animals CRISPR-Cas Systems / genetics Clustered Regularly Interspaced Short Palindromic Repeats / genetics Homeodomain Proteins / genetics Humans Muscular Dystrophy, Facioscapulohumeral / genetics Zebrafish / genetics

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
25 03 2020
Historique:
received: 28 06 2019
revised: 23 12 2019
accepted: 03 03 2020
entrez: 28 3 2020
pubmed: 28 3 2020
medline: 24 6 2021
Statut: ppublish

Résumé

The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of therapeutic discovery for genetic disorders. Here, we demonstrate the utility of a genome-wide CRISPR-Cas9 loss-of-function library to identify therapeutic targets for facioscapulohumeral muscular dystrophy (FSHD), a genetically complex type of muscular dystrophy for which there is currently no treatment. In FSHD, both genetic and epigenetic changes lead to misexpression of

Identifiants

DOI: 10.1126/scitranslmed.aay0271 PMID: 32213627 PMC: PMC7304480
pubmed: 32213627
pii: 12/536/eaay0271
doi: 10.1126/scitranslmed.aay0271
pmc: PMC7304480
mid: NIHMS1595111
pii:
doi:

Substances chimiques

Homeodomain Proteins 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 : NICHD NIH HHS
ID : P50 HD060848
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA218668
Pays : United States
Organisme : NHGRI NIH HHS
ID : DP2 HG010099
Pays : United States
Organisme : NHGRI NIH HHS
ID : R00 HG008171
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR062587
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.

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Auteurs

Angela Lek (A)

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA. kunkel@enders.tch.harvard.edu angela.lek@yale.edu.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Pediatrics and Genetics, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0001-5889-2169

Yuanfan Zhang (Y)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Pediatrics and Genetics, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0002-4325-8533

Keryn G Woodman (KG)

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
ORCID: 0000-0002-4969-3026

Shushu Huang (S)

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China.
Affiliated Hospital of Nantong University, Nantong 226001, China.

Alec M DeSimone (AM)

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Wellstone Muscular Dystrophy Program, Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
ORCID: 0000-0001-9961-9839

Justin Cohen (J)

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
ORCID: 0000-0003-3844-0653

Vincent Ho (V)

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.

James Conner (J)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
ORCID: 0000-0002-8886-1475

Lillian Mead (L)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
ORCID: 0000-0001-9084-380X

Andrew Kodani (A)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Pediatrics and Genetics, Harvard Medical School, Boston, MA 02115, USA.

Anna Pakula (A)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Pediatrics and Genetics, Harvard Medical School, Boston, MA 02115, USA.

Neville Sanjana (N)

New York Genome Center, New York, NY 10013, USA.
Department of Biology, New York University, New York, NY 10003, USA.
ORCID: 0000-0002-1504-0027

Oliver D King (OD)

Wellstone Muscular Dystrophy Program, Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.

Peter L Jones (PL)

Department of Pharmacology, University of Nevada, Reno School of Medicine, Reno, NV 89557, USA.

Kathryn R Wagner (KR)

Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Departments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Monkol Lek (M)

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.

Louis M Kunkel (LM)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA. kunkel@enders.tch.harvard.edu angela.lek@yale.edu.
Department of Pediatrics and Genetics, Harvard Medical School, Boston, MA 02115, USA.
Harvard Stem Cell Institute, Cambridge, MA 02138, USA.
Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
ORCID: 0000-0001-6126-0242

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Applying genome-wide CRISPR-Cas9 screens for...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Extinction de l'expression des gènes › Systèmes CRISPR-Cas › Applying genome-wide CRISPR-Cas9 screens for...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Séquences répétées en tandem › Clustered regularly interspaced short palindromic repeats › Applying genome-wide CRISPR-Cas9 screens for...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Protéines à homéodomaine › Applying genome-wide CRISPR-Cas9 screens for...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Applying genome-wide CRISPR-Cas9 screens for...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Dystrophies musculaires › Dystrophie musculaire facio-scapulo-humérale › Applying genome-wide CRISPR-Cas9 screens for...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Poissons › Cypriniformes › Cyprinidae › Danio zébré › Applying genome-wide CRISPR-Cas9 screens for...