The diverse roles of DNA methylation in mammalian development and disease
DNA methylation is of paramount importance for mammalian embryonic development. DNA
methylation has numerous functions: it is implicated in the repression of transposons and …
methylation has numerous functions: it is implicated in the repression of transposons and …
Gene regulation in time and space during X-chromosome inactivation
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 …
compensation between cells of females (XX karyotype) and males (XY). XCI is essential for …
CTCF and cohesin in genome folding and transcriptional gene regulation
Genome function, replication, integrity, and propagation rely on the dynamic structural
organization of chromosomes during the cell cycle. Genome folding in interphase provides …
organization of chromosomes during the cell cycle. Genome folding in interphase provides …
A comprehensive **st interactome reveals cohesin repulsion and an RNA-directed chromosome conformation
INTRODUCTION The mammal has evolved an epigenetic mechanism to silence one of two
X chromosomes in the XX female to equalize gene dosages with the XY male. Once …
X chromosomes in the XX female to equalize gene dosages with the XY male. Once …
Child health, developmental plasticity, and epigenetic programming
Plasticity in developmental programming has evolved in order to provide the best chances of
survival and reproductive success to the organism under changing environments …
survival and reproductive success to the organism under changing environments …
**st 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 …
males (XY) is achieved through X-chromosome inactivation (XCI). The X-linked X-inactive …
[HTML][HTML] **st nucleates local protein gradients to propagate silencing across the X chromosome
Summary The lncRNA **st forms∼ 50 diffraction-limited foci to transcriptionally silence one
X chromosome. How this small number of RNA foci and interacting proteins regulate a much …
X chromosome. How this small number of RNA foci and interacting proteins regulate a much …
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 …
D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 …
p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models
In mammalian embryos, proper zygotic genome activation (ZGA) underlies totipotent
development. Double homeobox (DUX)-family factors participate in ZGA, and mouse Dux is …
development. Double homeobox (DUX)-family factors participate in ZGA, and mouse Dux is …
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
B Cangiano, DS Swee, R Quinton, M Bonomi - Human genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …