Relating SMCHD1 structure to its function in epigenetic silencing

Cryo-EM structure of the human cohesin-NIPBL-DNA complex

(2020) Zhubing Shi et al.   SCIENCE

Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid–binding residues

(2020) Kelan Chen et al.   Science Signaling

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

(2019) Camille Dion et al.   NUCLEIC ACIDS RESEARCH

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

(2019) Richard J L F Lemmers et al.   JOURNAL OF MEDICAL GENETICS

PRC1 collaborates with SMCHD1 to fold the X-chromosome and spread Xist RNA between chromosome compartments

(2019) Chen-Yu Wang et al.   Nature Communications

The Gene-Silencing Protein MORC-1 Topologically Entraps DNA and Forms Multimeric Assemblies to Cause DNA Compaction

(2019) HyeongJun Kim et al.   MOLECULAR CELL

DNA loop extrusion by human cohesin

(2019) Iain F. Davidson et al.   SCIENCE

Human cohesin compacts DNA by loop extrusion

(2019) Yoori Kim et al.   SCIENCE

Distinct Roles for Condensin’s Two ATPase Sites in Chromosome Condensation

(2019) Ahmed M.O. Elbatsh et al.   MOLECULAR CELL

SMCHD1 Merges Chromosome Compartments and Assists Formation of Super-Structures on the Inactive X

(2018) Chen-Yu Wang et al.   CELL

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function

(2018) Alexandra D. Gurzau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

FSHD type 2 and Bosma arhinia microphthalmia syndrome

(2018) Karlien Mul et al.   NEUROLOGY

Real-time imaging of DNA loop extrusion by condensin

(2018) Mahipal Ganji et al.   SCIENCE

Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms

(2018) Christopher H. Douse et al.   Nature Communications

Smchd1 regulates long-range chromatin interactions on the inactive X chromosome and at Hox clusters

(2018) Natasha Jansz et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Towards a Unified Model of SMC Complex Function

(2018) Markus Hassler et al.   CURRENT BIOLOGY

The non-canonical SMC protein SmcHD1 antagonises TAD formation and compartmentalisation on the inactive X chromosome

(2018) Michal R. Gdula et al.   Nature Communications

Smchd1 Targeting to the Inactive X Is Dependent on the Xist-HnrnpK-PRC1 Pathway

(2018) Natasha Jansz et al.   Cell Reports

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

(2017) Karine Nguyen et al.   HUMAN MUTATION

Cohesin is positioned in mammalian genomes by transcription, CTCF and Wapl

(2017) Georg A. Busslinger et al.   NATURE

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

(2017) Christopher T Gordon et al.   NATURE GENETICS

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

(2017) Natalie D Shaw et al.   NATURE GENETICS

The condensin complex is a mechanochemical motor that translocates along DNA

(2017) Tsuyoshi Terakawa et al.   SCIENCE

Overall Shapes of the SMC-ScpAB Complex Are Determined by Balance between Constraint and Relaxation of Its Structural Parts

(2017) Katsuhiko Kamada et al.   STRUCTURE

The Epigenetic Regulator SMCHD1 in Development and Disease

(2017) Natasha Jansz et al.   TRENDS IN GENETICS

Specialized interfaces of Smc5/6 control hinge stability and DNA association

(2017) Aaron Alt et al.   Nature Communications

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

(2017) Amanda G. Mason et al.   Skeletal Muscle

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

(2016) Marlinde L. van den Boogaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The hinge domain of the epigenetic repressor Smchd1 adopts an unconventional homodimeric configuration

(2016) K. Chen et al.   BIOCHEMICAL JOURNAL

The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain

(2016) K. Chen et al.   BIOCHEMICAL JOURNAL

Rapid movement and transcriptional re‐localization of human cohesin on DNA

(2016) Iain F Davidson et al.   EMBO JOURNAL

SMC complexes: from DNA to chromosomes

(2016) Frank Uhlmann   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Structural Insights into Ring Formation of Cohesin and Related Smc Complexes

(2016) Thomas Gligoris et al.   TRENDS IN CELL BIOLOGY

BMI1 regulates PRC1 architecture and activity through homo- and hetero-oligomerization

(2016) Felicia Gray et al.   Nature Communications

Structural Basis for Dimer Formation of Human Condensin Structural Maintenance of Chromosome Proteins and Its Implications for Single-stranded DNA Recognition

(2015) Susumu Uchiyama et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome

(2015) Nicholas J. Brideau et al.   MOLECULAR AND CELLULAR BIOLOGY

Molecular Basis for SMC Rod Formation and Its Dissolution upon DNA Binding

(2015) Young-Min Soh et al.   MOLECULAR CELL

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

(2015) Kelan Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

(2014) Mirjam Larsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

(2014) Richard J.L.F. Lemmers et al.   HUMAN MOLECULAR GENETICS

Crystal structure of the PRC1 ubiquitylation module bound to the nucleosome

(2014) Robert K. McGinty et al.   NATURE

The maintenance of chromosome structure: positioning and functioning of SMC complexes

(2014) Kristian Jeppsson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

(2013) Sabrina Sacconi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SAM Domain Polymerization Links Subnuclear Clustering of PRC1 to Gene Silencing

(2013) Kyoichi Isono et al.   DEVELOPMENTAL CELL

The MORC family

(2013) Da-Qiang Li et al.   Epigenetics

Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes

(2013) Anne-Valerie Gendrel et al.   MOLECULAR AND CELLULAR BIOLOGY

Structure of Parkin Reveals Mechanisms for Ubiquitin Ligase Activation

(2013) J.-F. Trempe et al.   SCIENCE

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

(2013) Arne W Mould et al.   Epigenetics & Chromatin

The Structure of DNA-Bound Human Topoisomerase II Alpha: Conformational Mechanisms for Coordinating Inter-Subunit Interactions with DNA Cleavage

(2012) Timothy J. Wendorff et al.   JOURNAL OF MOLECULAR BIOLOGY

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Structure and DNA binding activity of the mouse condensin hinge domain highlight common and diverse features of SMC proteins

(2010) Julia J. Griese et al.   NUCLEIC ACIDS RESEARCH

MutL homologs in restriction-modification systems and the origin of eukaryotic MORC ATPases

(2008) Lakshminarayan M Iyer et al.   Biology Direct

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

(2008) Marnie E Blewitt et al.   NATURE GENETICS