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 …
Associating cellular epigenetic models with human phenotypes
Epigenetic association studies have been carried out to test the hypothesis that
environmental perturbations trigger cellular reprogramming, with downstream effects on …
environmental perturbations trigger cellular reprogramming, with downstream effects on …
G4access identifies G-quadruplexes and their associations with open chromatin and imprinting control regions
C Esnault, T Magat, A Zine El Aabidine… - Nature …, 2023 - nature.com
Metazoan promoters are enriched in secondary DNA structure-forming motifs, such as G-
quadruplexes (G4s). Here we describe 'G4access', an approach to isolate and sequence …
quadruplexes (G4s). Here we describe 'G4access', an approach to isolate and sequence …
Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
Studies on genetic–epigenetic interactions, including the map** of methylation
quantitative trait loci (mQTLs) and haplotype-dependent allele-specific DNA methylation …
quantitative trait loci (mQTLs) and haplotype-dependent allele-specific DNA methylation …
Crosstalk of genetic variants, allele-specific DNA methylation, and environmental factors for complex disease risk
Over the past decades, genome-wide association studies (GWAS) have identified thousands
of phenotype-associated DNA sequence variants for potential explanations of inter …
of phenotype-associated DNA sequence variants for potential explanations of inter …
Causes and consequences of multi-locus imprinting disturbances in humans
Eight syndromes are associated with the loss of methylation at specific imprinted loci. There
has been increasing evidence that these methylation defects in patients are not isolated …
has been increasing evidence that these methylation defects in patients are not isolated …
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation
Background Maternal effect mutations in the components of the subcortical maternal
complex (SCMC) of the human oocyte can cause early embryonic failure, gestational …
complex (SCMC) of the human oocyte can cause early embryonic failure, gestational …
DNA methylation dynamics of genomic imprinting in mouse development
JM SanMiguel, MS Bartolomei - Biology of reproduction, 2018 - academic.oup.com
DNA methylation is an essential epigenetic mark crucial for normal mammalian
development. This modification controls the expression of a unique class of genes …
development. This modification controls the expression of a unique class of genes …
The evolutionary advantage in mammals of the complementary monoallelic expression mechanism of genomic imprinting and its emergence from a defense against …
T Kaneko-Ishino, F Ishino - Frontiers in Genetics, 2022 - frontiersin.org
In viviparous mammals, genomic imprinting regulates parent-of-origin-specific monoallelic
expression of paternally and maternally expressed imprinted genes (PEGs and MEGs) in a …
expression of paternally and maternally expressed imprinted genes (PEGs and MEGs) in a …
ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells
V Riso, M Cammisa, H Kukreja, Z Anvar… - Nucleic acids …, 2016 - academic.oup.com
ZFP57 is necessary for maintaining repressive epigenetic modifications at Imprinting control
regions (ICRs). In mouse embryonic stem cells (ESCs), ZFP57 binds ICRs (ICRBS) and …
regions (ICRs). In mouse embryonic stem cells (ESCs), ZFP57 binds ICRs (ICRBS) and …