Genetic Syndromes and Imprinting

Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq

This paper uses long-read DNA methylation sequencing and Strand-seq to detect parent-of-origin and haplotype chromosomes, achieving high accuracy in five trios.

Spatial and Temporal Regulation of Parent-of-Origin Allelic Expression in the Endosperm

This study identifies spatial and temporal regulation of parent-of-origin allelic expression in endosperm domains using FANS and RNASeq.

Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver Russell Syndrome-like mouse models

This study investigates the role of H19/Igf2 dysregulation in cardiac and placental defects in SRS-like mouse models, showing disrupted ECM and endothelial proliferation pathways.

Systematic investigation of imprinted gene expression and enrichment in the mouse brain explored at single-cell resolution

The paper systematically investigates imprinted gene expression in the mouse brain at single-cell resolution, finding over-representation in neurons and specific brain regions.

Allele-specific differential regulation of monoallelically expressed autosomal genes in the cardiac lineage

The paper investigates allele-specific regulation of monoallelically expressed autosomal genes in cardiac lineage cells, finding maternal allele dominance in cardiac development and homeostasis.

The imprinted Mir483 is a growth suppressor and metabolic regulator functioning through IGF1

This study identifies Mir483 as a growth suppressor and metabolic regulator that antagonizes its host gene Igf2 through IGF1 signaling, revealing a novel mechanism of growth control.

A truncating mutation of Magel2 in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomes

This study generates and characterizes a rat model with a truncating Magel2 mutation, revealing altered behavioral and physiological traits consistent with human neurodevelopmental disorders.

Polycomb-mediated repression of paternal chromosomes maintains haploid dosage in diploid embryos of Marchantia

The paper shows that paternal chromosome repression via Polycomb mark H3K27me3 maintains haploid gene dosage in diploid embryos of Marchantia polymorpha.

Long-read nanopore sequencing reveals novel common genetic structural variants in Prader-Willi syndrome and associated psychosis

This study uses long-read sequencing to identify novel structural variants in Prader-Willi syndrome patients, linking them to psychiatric traits and challenging current genetic hypotheses.

Maternal SMCHD1 controls both imprinted Xist expression and imprinted X chromosome inactivation

This study shows maternal SMCHD1 is essential for imprinted Xist expression and X chromosome inactivation in mouse embryos and placenta.

Along the Bos Taurus genome, uncover candidate Imprinting Control Regions

The paper identifies candidate Imprinting Control Regions (ICRs) in Bos Taurus by analyzing CpG-rich motifs and visualizing them on the UCSC genome browser.

Methylation status of VTRNA2-1/nc886 is stable across human populations, monozygotic twin pairs and in majority of somatic tissues

The paper examines nc886 methylation across populations and tissues, finding stable levels except in specific tissues and some discordance in dizygotic twins.

Genome-Wide Detection of Imprinted Differentially Methylated Regions Using Nanopore Sequencing

The paper uses nanopore sequencing to detect imprinted differentially methylated regions in human B-lymphocyte cell lines, identifying known and novel DMRs and showing conservation across species.

Angelman syndrome patient neuron screen identifies a potent and selective clinical ASO targeting UBE3A-ATS with long lasting effect in cynomolgus monkey

The paper identifies a potent ASO targeting UBE3A-ATS in Angelman syndrome patient neurons, showing long-lasting effects in cynomolgus monkeys.

Genetic, epigenetic, and environmental mechanisms govern allele-specific gene expression

The paper investigates how genetic, epigenetic, and environmental factors influence allele-specific gene expression in mice, identifying tissue- and context-dependent patterns and inconsistent ASE biases.

Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

This study compares DNA methylome changes in spontaneous and ART-induced large offspring syndrome, finding shared and distinct epigenetic patterns across tissues and breeds.

Parent-of-origin effects propagate through networks to shape metabolic traits

The paper identifies a network of imprinted and non-imprinted genes that propagate parent-of-origin effects on metabolic traits through epistatic interactions in mice.

Methylation pattern of polymorphically imprinted nc886 is not conserved across mammalia

The paper examines nc886 methylation patterns across mammals, finding non-conserved imprinting and methylation status, suggesting limited use of animal models for nc886 research.

Gait as a Quantitative Translational Outcome Measure inAngelman Syndrome

This study uses automated gait analysis in an Angelman Syndrome mouse model to identify quantitative motor impairments, showing their translational relevance for therapeutic development.

Allelic expression analysis of Imprinted and X-linked genes from bulk and single-cell transcriptomes

BrewerIX analyzes allelic expression of imprinted and X-linked genes from bulk and single-cell transcriptomes to identify aberrant expression patterns in various biological contexts.

The imprinted Zdbf2 gene finely tunes control of feeding and growth in neonates

This study shows that the imprinted Zdbf2 gene is critical for neonatal growth and feeding adaptation in mice, with loss of function leading to poor survival and reduced body weight.

Loss of imprinting of the Igf2-H19 ICR1 enhances placental endocrine capacity via sex-specific alterations in signalling pathways in the mouse.

This study shows that loss of imprinting at the Igf2-H19 ICR1 in mouse placental endocrine junctional zone leads to sex-specific changes in signaling pathways affecting endocrine capacity.

Lifestyle and Genetic Factors Modify Parent-of-Origin Effects on the Human Methylome

This study identifies modifiable parent-of-origin effects on DNA methylation by analyzing genetic and environmental factors in a large cohort.

Deficiency of the paternally inherited gene Magel2 alters the development of separation-induced vocalization and maternal behavior in mice

This study shows that loss of the paternally inherited Magel2 gene in mice reduces separation-induced vocalizations and alters maternal behavior.

Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility.

The paper identifies 9 transcripts common to all PWS subtypes and finds reduced mitochondrial transcripts and defects in PW-UPD +ASD neurons, suggesting mitochondrial dysfunction may increase autism risk.

A bipartite element with allele-specific functions safeguards DNA methylation imprints at the Dlk1-Dio3 locus

The paper identifies a bipartite imprinting control region at the Dlk1-Dio3 locus that maintains imprint stability through allele-specific regulation of DNA methylation and chromatin structure.

Inference of cell-type specific imprinted regulatory elements and genes during human neuronal differentiation

The paper infers cell-type specific imprinted regulatory elements and genes during human neuronal differentiation using allelic bias analysis in chromatin accessibility and gene expression.

Locus specific epigenetic modalities of random allelic expression imbalance

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.

Comparison of mouse models reveals a molecular distinction between psychotic illness in PWS and schizophrenia

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

Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA

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.