Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …
of genes, is required for normal development, and its disruption leads to human disease …
[HTML][HTML] Progress toward understanding chromosome silencing by Xist RNA
The X inactive-specific transcript (Xist) gene is the master regulator of X chromosome
inactivation in mammals. Xist produces a long noncoding (lnc) RNA that accumulates over …
inactivation in mammals. Xist produces a long noncoding (lnc) RNA that accumulates over …
Why weight? Modelling sample and observational level variability improves power in RNA-seq analyses
Variations in sample quality are frequently encountered in small RNA-sequencing
experiments, and pose a major challenge in a differential expression analysis. Removal of …
experiments, and pose a major challenge in a differential expression analysis. Removal of …
DAXX adds a de novo H3. 3K9me3 deposition pathway to the histone chaperone network
A multitude of histone chaperones are required to support histones from their biosynthesis
until DNA deposition. They cooperate through the formation of histone co-chaperone …
until DNA deposition. They cooperate through the formation of histone co-chaperone …
Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
X-chromosome inactivation (XCI) achieves dosage compensation between males and
females through the silencing of the majority of genes on one of the female X chromosomes …
females through the silencing of the majority of genes on one of the female X chromosomes …
Evolution of vertebrate sex chromosomes and dosage compensation
JAM Graves - Nature Reviews Genetics, 2016 - nature.com
Differentiated sex chromosomes in mammals and other vertebrates evolved independently
but in strikingly similar ways. Vertebrates with differentiated sex chromosomes share the …
but in strikingly similar ways. Vertebrates with differentiated sex chromosomes share the …
[HTML][HTML] SMCHD1 merges chromosome compartments and assists formation of super-structures on the inactive X
Mammalian chromosomes are partitioned into A/B compartments and topologically
associated domains (TADs). The inactive X (Xi) chromosome, however, adopts a distinct …
associated domains (TADs). The inactive X (Xi) chromosome, however, adopts a distinct …
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
Z Yao, L Snider, J Balog, RJLF Lemmers… - Human molecular …, 2014 - academic.oup.com
Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of
the D4Z4 macrosatellite array and recent studies have shown that this results in the …
the D4Z4 macrosatellite array and recent studies have shown that this results in the …
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
ND Shaw, H Brand, ZA Kupchinsky, H Bengani… - Nature …, 2017 - nature.com
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …
Systematic allelic analysis defines the interplay of key pathways in X chromosome inactivation
Xist RNA, the master regulator of X chromosome inactivation, acts in cis to induce
chromosome-wide silencing. Whilst recent studies have defined candidate silencing factors …
chromosome-wide silencing. Whilst recent studies have defined candidate silencing factors …