Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

D Monk, DJG Mackay, T Eggermann, ER Maher… - Nature Reviews …, 2019 - nature.com
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 …

Associating cellular epigenetic models with human phenotypes

T Lappalainen, JM Greally - Nature Reviews Genetics, 2017 - nature.com
Epigenetic association studies have been carried out to test the hypothesis that
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 …

Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era

C Do, A Shearer, M Suzuki, MB Terry, J Gelernter… - Genome biology, 2017 - Springer
Studies on genetic–epigenetic interactions, including the mapping of 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

H Wang, D Lou, Z Wang - Frontiers in genetics, 2019 - frontiersin.org
Over the past decades, genome-wide association studies (GWAS) have identified thousands
of phenotype-associated DNA sequence variants for potential explanations of inter …

Causes and consequences of multi-locus imprinting disturbances in humans

M Sanchez-Delgado, A Riccio, T Eggermann… - Trends in Genetics, 2016 - cell.com
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 …

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

H Demond, Z Anvar, BN Jahromi, A Sparago, A Verma… - Genome medicine, 2019 - Springer
Background Maternal effect mutations in the components of the subcortical maternal
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 …

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 …

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 …