Genetic Syndromes and Imprinting

The paper investigates random monoallelic expression (RME) in F1 hybrid mouse cells before and after differentiation, revealing gene-specific, epigenetically regulated modes of allelic expression.

The paper compares gene expression in two mouse models of Prader-Willi Syndrome to identify molecular differences associated with psychotic illness versus schizophrenia.

The paper shows that maternal loss of imprinting at the H19/IGF2 locus causes cardiac pathologies in mice, with Igf2 driving transient hypertrophy and H19 causing progressive fibrosis and reduced ventricular function.

The paper shows EHMT2 maintains non-canonical imprinting by repressing ERVK promoters through DNA methylation and H3K4me3.

This study shows that antisense oligonucleotides targeting UBE3A-ATS restore UBE3A expression by removing transcriptional interference in Angelman syndrome neurons.

The paper replicates and extends previous findings showing no parent-of-origin effects in Nasonia jewel wasps, instead finding species-of-origin effects using new data and analysis methods.

This study compares targeted RNA-seq and whole transcriptome RNA-seq for allele specific expression analysis in human term placentas, finding targeted RNA-seq improves SNP coverage, SNP count per gene, read depth, and SNP concordance.

This study investigates epigenetic mechanisms in mammals, revealing distinct roles of DNA methylation and Polycomb group repressors in autosomal imprinting and identifying unique pathways in the extraembryonic ectoderm.

This study investigates the developmental issues in bovine haploid androgenetic embryos, identifying epigenetic dysregulation of imprinted and X-linked genes as a key factor.

The paper investigates the relationship between subnuclear localization and gene expression at the imprinted Dlk1-Dio3 locus, finding that transcriptional activity, not repression or parental origin, determines localization.

The paper was withdrawn due to data inconsistencies and unsupported conclusions about the role of Peg13 in regulating sexual preference and brain transcriptome in mice.

The paper investigates how non-coding RNAs from the Prader-Willi syndrome locus regulate gene expression in human iPSCs, showing their role in neurodevelopmental processes.

The paper shows that donor cell sex and reprogramming conditions affect imprinting defects in mouse iPSCs, with distinct methylation patterns observed under different culture conditions.

This study identifies Smchd1 as a maternal effect gene that regulates imprinted expression of 16 genes by translating polycomb-mediated histone methylation marks into a heritable chromatin state.

The paper identifies novel imprinted genes in mouse blastocysts and shows that their expression is mostly independent of DNA methylation but associated with H3K27me3 marks.

This study identifies mesenchymal Igf2 as a critical paracrine regulator of pancreatic growth and function through in vivo and ex vivo experiments.

The paper shows that disrupting ZNF274 binding at SNORD116 activates its maternal allele in PWS neurons without altering ZNF274 levels, suggesting a therapeutic strategy for Prader-Willi syndrome.

This study shows KDM6A differentially regulates maternal and paternal alleles in mouse genes, with distinct chromatin changes depending on the allele.

The paper investigates the abundance and localization of human UBE3A protein isoforms and their impact on Angelman Syndrome phenotypes using CRISPR/Cas9-generated isogenic cells.

The paper shows that maternal high-fat diet induces epigenetic changes in mice that affect two generations, with altered Dlk1 expression and DNA methylation.

IMPLICON is a high-throughput method for measuring DNA methylation at imprinted regions with high coverage and resolution, validated in mice and adapted for human use to detect imprinting errors.

The paper investigates the role of Ddc allelic expression in parental control over offspring behavior using allele-specific reporter mice and machine learning analyses.

This study shows that mice lacking paternal expression of Grb10 exhibit increased risk-taking behavior in specific tasks, supporting the idea that imprinted genes influence risk tolerance oppositely based on parental origin.

The paper identifies candidate imprinted genes and Imprinting Control Regions (ICRs) in the human genome using ZFBS-Morph overlaps and density plots.

The paper identifies DNA methylation as a key mechanism for maintaining monoallelic expression on autosomes and reveals its tunable control of allele-specific expression.

The paper shows maternally-expressed miRNAs repress paternally-driven genes in neurons, suggesting imprinted miRNAs mediate parental genomic conflict.

The paper shows that lineage-specific retroviral promoters drive the evolution of maternal imprinting by establishing DNA methylation at imprinted genes in mice and humans.

The paper investigates how CTCF modulates sub-TAD structure at imprinted domains in mice, affecting gene activity through allele-specific binding.

This paper investigates the molecular impacts of UBE3A loss in a novel rat model of Angelman syndrome using systems biology approaches, revealing epigenetic network interactions between maternal and paternal transcripts.

The paper identifies candidate imprinted genes and Imprinting Control Regions (ICRs) in the mouse genome using density-plots, uncovering several genes involved in critical physiological processes.