DNA methylation in satellite repeats disorders

Bring It to an End: Does Telomeres Size Matter?

(2019) Camille Laberthonnière et al.   Cells

The Emerging Roles of TERRA in Telomere Maintenance and Genome Stability

(2019) Nicole Bettin et al.   Cells

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

(2019) Camille Dion et al.   NUCLEIC ACIDS RESEARCH

R-Loops as Cellular Regulators and Genomic Threats

(2019) Madzia P. Crossley et al.   MOLECULAR CELL

4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in Facioscapulohumeral muscular dystrophy

(2019) Alice Cortesi et al.   GENOME RESEARCH

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

(2019) Karine Nguyen et al.   JOURNAL OF MEDICAL GENETICS

Heterochromatin drives compartmentalization of inverted and conventional nuclei

(2019) Martin Falk et al.   NATURE

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

(2018) Chen-Yu Wang et al.   CELL

Alpha satellite DNA biology: finding function in the recesses of the genome

(2018) Shannon M. McNulty et al.   CHROMOSOME RESEARCH

Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state

(2018) Guillaume Velasco et al.   HUMAN MOLECULAR GENETICS

Transcribing Centromeres: Noncoding RNAs and Kinetochore Assembly

(2018) Paul B. Talbert et al.   TRENDS IN GENETICS

A novel source of arterial valve cells linked to bicuspid aortic valve without raphe in mice

(2018) Lorriane Eley et al.   eLife

Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries

(2018) James H. Sun et al.   CELL

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

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

Genetics meets DNA methylation in rare diseases

(2018) Guillaume Velasco et al.   CLINICAL GENETICS

CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome

(2018) Motoko Unoki et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Emerging roles of macrosatellite repeats in genome organization and disease development

(2017) Gabrijela Dumbovic et al.   Epigenetics

Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes

(2017) Andrew T.M. Bagshaw   Genome Biology and Evolution

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

DUX-family transcription factors regulate zygotic genome activation in placental mammals

(2017) Alberto De Iaco et al.   NATURE GENETICS

Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons

(2017) Peter G Hendrickson et al.   NATURE GENETICS

ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing

(2017) Sole Gatto et al.   NUCLEIC ACIDS RESEARCH

Integrity of the human centromere DNA repeats is protected by CENP-A, CENP-C, and CENP-T

(2017) Simona Giunta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Demethylated HSATII DNA and HSATII RNA Foci Sequester PRC1 and MeCP2 into Cancer-Specific Nuclear Bodies

(2017) Lisa L. Hall et al.   Cell Reports

CENP-A chromatin disassembly in stressed and senescent murine cells

(2017) Sabrine Hédouin et al.   Scientific Reports

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

Association of HO-1 (GT)n Promoter Polymorphism and Cardiovascular Disease: A Reanalysis of the Literature

(2016) Kristien E.L. Daenen et al.   CANADIAN JOURNAL OF CARDIOLOGY

No longer a nuisance: long non-coding RNAs join CENP-A in epigenetic centromere regulation

(2016) Silvana Rošić et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Human centromere repositioning within euchromatin after partial chromosome deletion

(2016) Lori L. Sullivan et al.   CHROMOSOME RESEARCH

Facioscapulohumeral Dystrophy

(2016) Leo H. Wang et al.   Current Neurology and Neuroscience Reports

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

(2016) Javier Quilez et al.   NUCLEIC ACIDS RESEARCH

Deletion ofDXZ4on the human inactive X chromosome alters higher-order genome architecture

(2016) Emily M. Darrow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcription of tandemly repetitive DNA: functional roles

(2015) Maria Assunta Biscotti et al.   CHROMOSOME RESEARCH

SORBS2transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

(2015) Jérôme D. Robin et al.   GENOME RESEARCH

Hemizygosity forSMCHD1in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

(2015) Richard J. L. F. Lemmers et al.   HUMAN MUTATION

Function and information content of DNA methylation

(2015) Dirk Schübeler   NATURE

A comprehensive Xist interactome reveals cohesin repulsion and an RNA-directed chromosome conformation

(2015) A. Minajigi et al.   SCIENCE

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

(2015) Peter E. Thijssen et al.   Nature Communications

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

Genomic patterns and context specific interpretation of DNA methylation

(2014) Tuncay Baubec et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The Centromere: Chromatin Foundation for the Kinetochore Machinery

(2014) Tatsuo Fukagawa et al.   DEVELOPMENTAL CELL

Dissection of thousands of cell type-specific enhancers identifies dinucleotide repeat motifs as general enhancer features

(2014) J. O. Yanez-Cuna et al.   GENOME RESEARCH

Microsatellite Polymorphism in the Heme Oxygenase-1 Promoter Is Associated With Nonsevere and Late-Onset Preeclampsia

(2014) Tea Kaartokallio et al.   HYPERTENSION

Facioscapulohumeral Muscular Dystrophy

(2014) Jeffrey Statland et al.   NEUROLOGIC CLINICS

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

(2014) M.-C. Gaillard et al.   NEUROLOGY

Population-based incidence and prevalence of facioscapulohumeral dystrophy

(2014) J. C. W. Deenen et al.   NEUROLOGY

Estimation of theRNU2macrosatellite mutation rate byBRCA1mutation tracing

(2014) Chloé Tessereau et al.   NUCLEIC ACIDS RESEARCH

An association study between Heme oxygenase-1 genetic variants and Parkinson's disease

(2014) Pedro Ayuso et al.   Frontiers in Cellular Neuroscience

DNA Methylation in Mammals

(2014) E. Li et al.   Cold Spring Harbor Perspectives in Biology

Digital Genotyping of Macrosatellites and Multicopy Genes Reveals Novel Biological Functions Associated with Copy Number Variation of Large Tandem Repeats

(2014) Manisha Brahmachary et al.   PLoS Genetics

A long non-coding RNA is required for targeting centromeric protein A to the human centromere

(2014) Delphine Quénet et al.   eLife

D4Z4as a prototype of CTCF and lamins-dependent insulator in human cells

(2014) Alexandre Ottaviani et al.   Nucleus

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

(2013) Natacha Broucqsault et al.   HUMAN MOLECULAR GENETICS

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

(2013) Hirohisa Nitta et al.   JOURNAL OF HUMAN GENETICS

A focal domain of extreme demethylation within D4Z4 in FSHD2

(2013) L. M. Hartweck et al.   NEUROLOGY

A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy

(2012) Daphne S. Cabianca et al.   CELL

The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome

(2012) Andrea H. Horakova et al.   HUMAN MOLECULAR GENETICS

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

(2012) Takako Iida Jones et al.   HUMAN MOLECULAR GENETICS

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

Asymmetric Bidirectional Transcription from the FSHD-Causing D4Z4 Array Modulates DUX4 Production

(2012) Gregory J. Block et al.   PLoS One

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

(2011) Jessica C. de Greef et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy

(2011) Karine Nguyen et al.   ANNALS OF NEUROLOGY

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47

(2011) Judit Balog et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide dynamic changes of DNA methylation of repetitive elements in human embryonic stem cells and fetal fibroblasts

(2011) Jianzhong Su et al.   GENOMICS

Variation in Array Size, Monomer Composition and Expression of the Macrosatellite DXZ4

(2011) Deanna C. Tremblay et al.   PLoS One

Aberrant Overexpression of Satellite Repeats in Pancreatic and Other Epithelial Cancers

(2011) D. T. Ting et al.   SCIENCE

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

(2010) Tanel Punga et al.   EMBO Molecular Medicine

Altered Intra-Nuclear Organisation of Heterochromatin and Genes in ICF Syndrome

(2010) Andrew Jefferson et al.   PLoS One

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

A GA microsatellite in the Fli1 promoter modulates gene expression and is associated with systemic lupus erythematosus patients without nephritis

(2010) Erin E Morris et al.   ARTHRITIS RESEARCH & THERAPY

Replication Timing of Human Telomeres Is Chromosome Arm–Specific, Influenced by Subtelomeric Structures and Connected to Nuclear Localization

(2010) Nausica Arnoult et al.   PLoS Genetics

Down-regulation of Epidermal Growth Factor Receptor by Selective Expansion of a 5'-End Regulatory Dinucleotide Repeat in Colon Cancer with Microsatellite Instability

(2009) S. Baranovskaya et al.   CLINICAL CANCER RESEARCH

CpG islands - ‘A rough guide’

(2009) Robert S. Illingworth et al.   FEBS LETTERS

SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination

(2009) Alix Kerrest et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy

(2009) Alexandre Ottaviani et al.   PLoS Genetics

Analysis of the largest tandemly repeated DNA families in the human genome

(2008) Peter E Warburton et al.   BMC GENOMICS

DXZ4 chromatin adopts an opposing conformation to that of the surrounding chromosome and acquires a novel inactive X-specific role involving CTCF and antisense transcripts

(2008) B. P. Chadwick   GENOME RESEARCH

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

(2008) Shiran Yehezkel et al.   HUMAN MOLECULAR GENETICS