Genetic Syndromes and Imprinting

Regulation of Parent-of-Origin Allelic Expression in Arabidopsis thaliana endosperm

The paper identifies over 300 imprinted genes in Arabidopsis thaliana endosperm and shows that imprinting involves differential dosage rather than binary allele expression.

The Gag Protein PEG10 Binds to RNA and Regulates Trophoblast Stem Cell Lineage Specification.

This study shows that PEG10 binds RNA and regulates trophoblast stem cell differentiation into placental lineages by stabilizing key RNAs like Hbegf.

Perinatal features of Prader-Willi syndrome: a Chinese cohort

This study characterizes perinatal features of Prader-Willi syndrome in a Chinese cohort, identifying risk factors and neonatal presentations that aid in early diagnosis.

Epigenetic signatures associated with imprinted paternally-expressed genes in the Arabidopsis endosperm

The paper identifies an epigenetic signature in Arabidopsis endosperm that marks imprinted paternally-expressed genes and predicts new ones with high accuracy.

Using long-read sequencing to detect imprinted DNA methylation

The paper uses long-read nanopore sequencing to detect imprinted DNA methylation and identifies known and novel differentially methylated regions.

Imprinted gene expression at the Dlk1-Dio3 cluster is controlled by both maternal and paternal IG-DMRs in a tissue-specific fashion.

The paper shows that imprinting at the Dlk1-Dio3 cluster is controlled by both maternal and paternal IG-DMRs in a tissue-specific manner, with TRIM28 playing a role in regulating paternal IG-DMR enhancer activity.

A bipartite boundary element restricts UBE3A imprinting to mature neurons.

This study identifies a bipartite boundary element that restricts UBE3A antisense transcript expression to neurons, essential for UBE3A imprinting in Angelman syndrome.

Reciprocal F1 hybrids of two inbred mouse strains reveal parent-of-origin and perinatal diet effects on behavior and expression

The paper investigates parent-of-origin effects and environment-by-POE on behavior and gene expression using reciprocal F1 hybrids of inbred mouse strains exposed to different diets.

Coping-Style Behaviour Identified by a Survey of Parent-of-Origin Effects in the Rat

The paper identifies coping-style behaviors in rats with enhanced parent-of-origin heritability and confirms these effects through reciprocal crosses.

Conserved mechanism of nucleoporin regulation of the Kcnq1ot1 imprinted domain with divergence in embryonic and trophoblast stem cells

The paper investigates how nucleoporins regulate the Kcnq1ot1 imprinted domain in embryonic and trophoblast stem cells, finding conserved mechanisms with lineage-specific differences.

Parent of origin gene expression in a founder population identifies two new imprinted genes at known imprinted regions

The paper identifies two new imprinted genes in a founder population using allele-specific expression and phased genotype data.

Prader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN

This study shows that Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN, and exogenous expression alone cannot rescue the genetic deficiency of Snord116 paternal deletion.

Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

The paper analyzes allelic expression bias in schizophrenia using RNA-seq data to assess imprinted gene expression and its relationship with age, ancestry, and disease.

Transcription-dependent DNA methylation at the imprinted Zrsr1-DMR

The paper shows that transcription of Commd1 through the Zrsr1-DMR is required for its methylation, establishing a transcription-dependent mechanism for imprinted gene regulation.

Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex

This study identifies Snord116-dependent diurnal DNA methylation rhythms in mouse cortex and shows their disruption in Prader-Willi syndrome.

Uncoupling DNA- and RNA-directed DNA methylation at Rasgrf1

The paper investigates the role of pitRNA and its tandem repeats in directing DNA methylation at the Rasgrf1 locus, showing that pitRNA alone is insufficient and the repeats have cis-acting roles beyond transcriptional control.

Impulsive choice in mice lacking paternal expression of Grb10 suggests intra-genomic conflict in behavior

The paper shows that mice lacking paternal Grb10 make fewer impulsive choices, suggesting imprinted genes influence impulsive behavior and may contribute to pathological conditions.

Assessment of the CTCF Binding Sites and Repeat-Positions Upstream the Human H19 Gene

The paper evaluates the annotation of repeats and CTCF binding sites upstream of the H19 gene using sequence comparisons and ENCODE data, finding that CTCF site 5 is not supported and identifying a new chromatin boundary.

A Resource For The Allele-Specific Analysis Of DNA Methylation At Multiple Genomically Imprinted Loci In Mice

The paper provides a resource for allele-specific analysis of DNA methylation at imprinted loci in mice using a hybrid strain.

Imprinted loci may be more widespread in humans than previously appreciated and enable limited assignment of parental allelic transmissions in unrelated individuals

The paper identifies 35 novel and 50 known imprinted loci using DNA methylation and GWAS data, showing parent-of-origin effects that enable parental allelic transmission modeling in unrelated individuals.