ArticleMolecular cell2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Erratum issuedOpen access · bronzeAbstract read
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Article in Molecular cell, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers.
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37citing papers in PubMed
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37 citing papers in PubMed, 55 citations in OpenAlex.
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- The microcephaly-associated transcriptional regulator AUTS2 cooperates with Polycomb complex PRC2 to produce upper-layer neurons in mice.The EMBO journal · 2025Article
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Corrections and comments
- Erratum issued
Authors and funding
27 authors at 14 institutions in 7 countries.
Sanxiong LiuDepartment of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Kimberly A AldingerCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Chi Vicky ChengCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Takae KiyamaRuiz Department of Ophthalmology and Visual Science, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, TX 77030, USA; National Eye Institute, NIH, Bethesda, MD 20892, USA.
Mitali DaveCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Hanna K McNamaraCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Wukui ZhaoDepartment of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA.
James M StaffordDepartment of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Nicolas DescostesDepartment of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Pedro LeeDepartment of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Stefano G CaraffiStruttura Semplice Dipartimentale di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Ivan IvanovskiStruttura Semplice Dipartimentale di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Institute of Medical Genetics, University of Zürich, Zürich, Switzerland.
Edoardo ErrichielloDipartimento di Medicina Molecolare, Università di Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy.
Christiane ZweierInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Orsetta ZuffardiDipartimento di Medicina Molecolare, Università di Pavia, Pavia, Italy.
Michael SchneiderCarle Physicians Group, Section of Neurology, St. Christopher's Hospital for Children, Urbana, IL, USA.
Antigone S PapavasiliouNeurology, IASO Children's Hospital, Athens, Greece.
M Scott PerryComprehensive Epilepsy Program, Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, TX 76104, USA.
Jennifer HumbersonDivision of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA, USA.
Megan T ChoGeneDx, Inc., Gaithersburg, MD, USA.
Astrid WeberLiverpool Women's Hospital, Liverpool, UK.
Andrew SwaleLiverpool Women's Hospital, Liverpool, UK; Manchester Centre for Genomic Medicine, Manchester, UK.
Tudor C BadeaNational Eye Institute, NIH, Bethesda, MD 20892, USA; Research and Development Institute, Transilvania University of Brasov, School of Medicine, Brasov, Romania.
Chai-An MaoRuiz Department of Ophthalmology and Visual Science, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, TX 77030, USA; National Eye Institute, NIH, Bethesda, MD 20892, USA.
Livia GaravelliStruttura Semplice Dipartimentale di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
William B DobynsCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA; Department of Pediatrics (Genetic Medicine), University of Washington, Seattle, WA, USA.
Danny ReinbergDepartment of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address: danny.reinberg@nyumc.org.
Howard Hughes Medical Institute · USAzienda Sanitaria Unità Locale di Reggio Emilia · ITNational Eye Institute · USUniversity of Liverpool · GBUniversity of Pavia · ITCook Children's Medical Center · USIaso Children’s Hospital · GRNYU Langone Health · USSt. Christopher's Hospital for Children · USTransylvania University of Brașov · ROUniversity of Bern · CHUniversity of Virginia Children's Hospital · USUniversity of Washington · USUniversity of Zurich · CH
Funding
The Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9MRepression via Facultative HeterochromatinR01CA199652 · NCI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI REINBERG, DANNY · 2015 to 2025
$4.2MUnderstanding CTCF Boundaries Controlling Hox Gene ExpressionR01NS100897 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Esteban Orlando Mazzoni, DANNY REINBERG · 2018 to 2026
$4.1MThe role of T-box transcriptional regulator Tbr2 in the development of ipRGCsR01EY024376 · NEI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI MAO, CHAI-AN · 2015 to 2024
$3.9MUTHouston Core Center for Vision ResearchP30EY028102 · NEI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MASSEY, STEPHEN C · 2017 to 2021
$3.1MAUTS2 and the chromatin dynamics of alcohol use disordersK99AA024837 · NIAAA · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI STAFFORD, JAMES M · 2017 to 2018
$328kHoward Hughes Medical InstituteNCI NIH HHS R01 CA199652NEI NIH HHS P30 EY028102NEI NIH HHS R01 EY024376NIAAA NIH HHS K99 AA024837NINDS NIH HHS R01 NS050375NINDS NIH HHS R01 NS100897
Abstract
The heterogeneous family of complexes comprising Polycomb repressive complex 1 (PRC1) is instrumental for establishing facultative heterochromatin that is repressive to transcription. However, two PRC1 species, ncPRC1.3 and ncPRC1.5, are known to comprise novel components, AUTS2, P300, and CK2, that convert this repressive function to that of transcription activation. Here, we report that individuals harboring mutations in the HX repeat domain of AUTS2 exhibit defects in AUTS2 and P300 interaction as well as a developmental disorder reflective of Rubinstein-Taybi syndrome, which is mainly associated with a heterozygous pathogenic variant in CREBBP/EP300. Moreover, the absence of AUTS2 or mutation in its HX repeat domain gives rise to misregulation of a subset of developmental genes and curtails motor neuron differentiation of mouse embryonic stem cells. The transcription factor nuclear respiratory factor 1 (NRF1) has a novel and integral role in this neurodevelopmental process, being required for ncPRC1.3 recruitment to chromatin.
Indexed as
AnimalsBrainCell DifferentiationChromatinCREB-Binding ProteinCytoskeletal ProteinsE1A-Associated p300 ProteinEmbryonic Stem CellsFemaleGenomicsHEK293 CellsHeterozygoteHumansMaleMiceNeuronsAUTS2 protein, humanAuts2 protein, mouseChromatinCREB-Binding ProteinCREBBP protein, humanCrebbp protein, mouseCytoskeletal ProteinsE1A-Associated p300 ProteinEP300 protein, humanEp300 protein, mouseNRF1 protein, humanNrf1 protein, mouseNuclear Respiratory Factor 1Transcription Factorsactive transcriptionAUTS2brain developmentncPRC1.3NRF1P300polycombRSTS
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