Emerging roles of macrosatellite repeats in genome organization and disease development

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

Long Noncoding RNAs in Cancer Pathways

(2016) Adam M. Schmitt et al.   CANCER CELL

Structural organization of the inactive X chromosome in the mouse

(2016) Luca Giorgetti et al.   NATURE

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

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD

(2015) Jong-Won Lim et al.   HUMAN MOLECULAR GENETICS

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

(2015) A. Minajigi et al.   SCIENCE

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

(2014) Suhas S.P. Rao et al.   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

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

(2014) Zizhen Yao et al.   HUMAN MOLECULAR GENETICS

Topological organization of multichromosomal regions by the long intergenic noncoding RNA Firre

(2014) Ezgi Hacisuleyman et al.   NATURE STRUCTURAL & MOLECULAR 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

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

(2013) Mireille Schaap et al.   BMC GENOMICS

Alternative Processing of the U2 Small Nuclear RNA Produces a 19–22nt Fragment with Relevance for the Detection of Non-Small Cell Lung Cancer in Human Serum

(2013) Julien Mazières et al.   PLoS One

Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene

(2013) Chloé Tessereau et al.   PLoS One

Long noncoding RNAs regulate adipogenesis

(2013) Lei Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transposable Elements Are Major Contributors to the Origin, Diversification, and Regulation of Vertebrate Long Noncoding RNAs

(2013) Aurélie Kapusta et al.   PLoS Genetics

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

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

Transposable elements reveal a stem cell-specific class of long noncoding RNAs

(2012) David Kelley et al.   GENOME BIOLOGY

The struggle for life of the genome's selfish architects

(2011) Aurélie Hua-Van et al.   Biology Direct

YY1 Tethers Xist RNA to the Inactive X Nucleation Center

(2011) Yesu Jeon et al.   CELL

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

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

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

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

The deubiquitinating enzyme USP17 is essential for GTPase subcellular localization and cell motility

(2011) Michelle de la Vega et al.   Nature Communications

Repetitive Elements May Comprise Over Two-Thirds of the Human Genome

(2011) A. P. Jason de Koning et al.   PLoS Genetics

Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome

(2010) Deanna C Tremblay et al.   BMC GENOMICS

The DUB/USP17 deubiquitinating enzymes: A gene family within a tandemly repeated sequence, is also embedded within the copy number variable Beta-defensin cluster

(2010) James F Burrows et al.   BMC GENOMICS

A Novel Correlation between LINE-1 Hypomethylation and the Malignancy of Gastrointestinal Stromal Tumors

(2010) S. Igarashi et al.   CLINICAL CANCER RESEARCH

Analysis of Active and Inactive X Chromosome Architecture Reveals the Independent Organization of 30 nm and Large-Scale Chromatin Structures

(2010) Catherine Naughton et al.   MOLECULAR CELL

DNA fingerprinting techniques for the analysis of genetic and epigenetic alterations in colorectal cancer

(2010) Johanna K. Samuelsson et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

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

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

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

(2009) Lauren Snider et al.   HUMAN MOLECULAR GENETICS

Changes in DNA methylation of tandem DNA repeats are different from interspersed repeats in cancer

(2009) Si Ho Choi et al.   INTERNATIONAL JOURNAL OF CANCER

Regulatory roles of natural antisense transcripts

(2009) Mohammad Ali Faghihi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations

(2009) Heather A. Bruce et al.   PSYCHIATRIC GENETICS

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

(2008) Peter E Warburton et al.   BMC GENOMICS

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

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

Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes

(2008) G.-F. Richard et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

(2008) Jessica C. de Greef et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

A Functional Role for 4qA/B in the Structural Rearrangement of the 4q35 Region and in the Regulation of FRG1 and ANT1 in Facioscapulohumeral Dystrophy

(2008) Iryna Pirozhkova et al.   PLoS One

Polycomb Proteins Targeted by a Short Repeat RNA to the Mouse X Chromosome

(2008) J. Zhao et al.   SCIENCE