Gene regulation in time and space during X-chromosome inactivation

A Loda, S Collombet, E Heard - Nature Reviews Molecular Cell Biology, 2022 - nature.com
X-chromosome inactivation (XCI) is the epigenetic mechanism that ensures X-linked dosage
compensation between cells of females (XX karyotype) and males (XY). XCI is essential for …

The diverse roles of DNA methylation in mammalian development and disease

MVC Greenberg, D Bourc'his - Nature reviews Molecular cell biology, 2019 - nature.com
DNA methylation is of paramount importance for mammalian embryonic development. DNA
methylation has numerous functions: it is implicated in the repression of transposons and …

Xist RNA in action: Past, present, and future

A Loda, E Heard - PLoS genetics, 2019 - journals.plos.org
In mammals, dosage compensation of sex chromosomal genes between females (XX) and
males (XY) is achieved through X-chromosome inactivation (XCI). The X-linked X-inactive …

DNA methylation: roles in mammalian development

ZD Smith, A Meissner - Nature Reviews Genetics, 2013 - nature.com
DNA methylation is among the best studied epigenetic modifications and is essential to
mammalian development. Although the methylation status of most CpG dinucleotides in the …

The roles of human DNA methyltransferases and their isoforms in shaping the epigenome

H Gujar, DJ Weisenberger, G Liang - Genes, 2019 - mdpi.com
A DNA sequence is the hard copy of the human genome and it is a driving force in
determining the physiological processes in an organism. Concurrently, the chemical …

DNA methylation dynamics in health and disease

Y Bergman, H Cedar - Nature structural & molecular biology, 2013 - nature.com
DNA methylation is an epigenetic mark that is erased in the early embryo and then re-
established at the time of implantation. In this Review, dynamics of DNA methylation during …

X-chromosome inactivation: a crossroads between chromosome architecture and gene regulation

R Galupa, E Heard - Annual review of genetics, 2018 - annualreviews.org
In somatic nuclei of female therian mammals, the two X chromosomes display very different
chromatin states: One X is typically euchromatic and transcriptionally active, and the other is …

[HTML][HTML] Progress toward understanding chromosome silencing by Xist RNA

N Brockdorff, JS Bowness, G Wei - Genes & development, 2020 - genesdev.cshlp.org
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 …

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

RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block… - Nature …, 2012 - nature.com
Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the
D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 …

X inactivation and escape: epigenetic and structural features

H Fang, CM Disteche, JB Berletch - Frontiers in cell and …, 2019 - frontiersin.org
X inactivation represents a complex multi-layer epigenetic mechanism that profoundly
modifies chromatin composition and structure of one X chromosome in females. The …