Genetic Syndromes and Imprinting

Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes

This study evaluates whole-genome long-read sequencing for diagnosing Prader-Willi and Angelman syndromes, showing high accuracy in detecting genetic variants and methylation differences.

An Nlrp5-null mutation leads to attenuated de novo methylation in oocytes, accompanied by a significant reduction in DNMT3L

This study shows that Nlrp5-null oocytes have reduced DNMT3L and impaired de novo methylation, leading to imprinting disorders and developmental issues.

Atypical Alpha Oscillatory EEG Dynamics in Children with Angelman Syndrome

This study identifies atypical alpha peak frequency (PAF) in EEGs of children with Angelman syndrome, showing reduced detection rates and lower frequencies compared to typically developing controls.

Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome

The paper identifies a gene regulatory network controlled by SNORD116 snoRNAs and predicts their targets in Prader-Willi syndrome using isogenic cell lines and computational analysis.

Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells

The paper develops isogenic human embryonic stem cell lines modeling Angelman and Prader-Willi syndromes to study allele-specific gene regulation and therapeutic approaches.

UBE3A reinstatement restores behavior and proteome in an Angelman Syndrome mouse model of Imprinting Defects

This study shows that restoring UBE3A expression in a mouse model of Angelman Syndrome improves behavior and proteome, supporting UBE3A reinstatement as a therapeutic strategy.

Investigation of a Novel Mouse Model of Prader-Willi Syndrome with Invalidation of Necdin and Magel2

This study creates a novel mouse model with deletion of Necdin and Magel2 genes, revealing functional interactions and phenotypes relevant to Prader-Willi Syndrome.

Integration of CTCF Loops, Methylome, and Transcriptome in Differentiating LUHMES as a Model for Imprinting Dynamics of the 15q11-q13 Locus in Human Neurons

The paper integrates CTCF loops, methylome, and transcriptome data from LUHMES neurons to study imprinting dynamics at the 15q11-q13 locus during differentiation.

Creation and Validation of the First Infinium DNA Methylation Array for the Human Imprintome

The paper develops a custom Infinium DNA methylation array for the human imprintome and validates its performance against WGBS and EPIC arrays.

Identification of the sequences responsible for maternal H19-ICR hypermethylation with Beckwith-Wiedemann syndrome-like overgrowth in mice

The paper identifies SOBS and CTS3 as the sequences responsible for maternal H19-ICR hypermethylation causing BWS-like overgrowth in mice.

Imprinted Grb10, encoding growth factor receptor bound protein 10, regulates fetal growth independently of the insulin-like growth factor type 1 receptor (Igf1r) and insulin receptor (Insr) genes

This study shows Grb10 regulates fetal growth independently of Igf1r and Insr, with some organ-specific interactions, particularly in the liver.

Loss of EED in the oocyte causes initial fetal growth restriction followed by placental hyperplasia and offspring overgrowth

The paper shows that loss of EED in mouse oocytes initially restricts fetal growth but later leads to placental hyperplasia and offspring overgrowth.

Non-coding 886 (nc886/vtRNA2-1), the epigenetic odd duck - implications for future studies

This paper reviews contradictions in nc886/VTRNA2-1 methylation and RNA function, reanalyzes existing data, and presents new findings on population geography and tumor methylation patterns.

Effects of noncanonical genomic imprinting in monoaminergic pathways on the regulation of social behaviors

This study investigates the functional effects of noncanonical genomic imprinting of Ddc and Th on social behaviors in mice, finding specific impacts on aggression, social recognition, and sociability preferences.

A methyl-seq tool to capture genomic imprinted loci

The paper develops a methyl-seq tool to identify genomic imprinted loci by detecting parent-of-origin methylation in 165 candidate regions.

Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configuration.

This study identifies molecular subgroups and epigenetic alterations in Beckwith-Wiedemann Syndrome and large offspring syndrome across methylome, transcriptome, and chromatin architecture.

A maternal-effect Padi6 variant results in abnormal nuclear localization of DNMT1 and failure of epigenetic reprogramming and zygotic genome activation in mouse embryos

Stability of Genomic Imprinting and X-Chromosome Inactivation in the Aging Brain

The paper examines genomic imprinting and X-chromosome inactivation stability in aging mouse brains, finding they remain largely stable despite epigenetic drift.

Biallelic non-productive enhancer-promoter interaction precedes imprinted expression of Kcnk9 during mouse neural commitment

The paper investigates allele-specific enhancer-promoter interactions in an imprinted domain during mouse neural commitment, finding that biallelic interactions occur but only maternal ones are productive.

Imprinting but not cytonuclear interactions affects parent-of-origin effect on seed size in Arabidopsis hybrids

The paper investigates parent-of-origin effects on seed size in Arabidopsis hybrids, finding that imprinting, not cytonuclear interactions, significantly influences seed size through imprinted genes involved in cell wall modification.

Imprinted Dlk1 dosage as a size determinant of the mammalian pituitary gland

This study shows that Dlk1 dosage in the pituitary gland affects stem cell commitment and long-term pituitary size.

Tissue-wide scRNA-seq analysis reveals enrichment of imprinted genes in stem and endocrine cell-types in mice

The paper analyzes scRNA-seq data from multiple mouse tissues to show imprinted genes are enriched in stem and endocrine cell types.

Allelic chromatin structure primes imprinted expression of Kcnk9 during neurogenesis

The paper investigates how allelic chromatin structure at the Peg13-Kcnk9 locus influences imprinted gene expression during neurogenesis in mice.

Epigenetic reprogramming of imprinting at meiosis

The paper investigates epigenetic reprogramming of imprinting during meiosis in the bryophyte Marchantia polymorpha, showing that imprinting is erased during meiosis and re-established in meiotic spores.

Fetal manipulation of maternal metabolism is a critical function of Igf2 imprinting

This study shows that Igf2 imprinting in mouse placental endocrine cells is critical for fetal manipulation of maternal metabolism, leading to nutrient allocation and offspring metabolic health outcomes.

Parenting deficits in Magel2-null mice predicted from systematic investigation of imprinted gene expression in galanin neurons of the hypothalamus

The paper identifies Magel2 as an imprinted gene critical for parenting behavior by linking its expression in galanin neurons to behavioral deficits in null mice.

Development of an ASO therapy for Angelman syndrome by targeting an evolutionarily conserved region at the start of the UBE3A-AS transcript

This paper describes the development of an antisense oligonucleotide (ASO) therapy targeting the UBE3A-AS transcript to reactivate paternal UBE3A expression in Angelman syndrome models.

Weak parent-of-origin expression bias: is this imprinting?

The paper analyzes RNA-seq data to assess the validity of weak parental-origin expression biases, finding many are artifacts and highlighting the need for better tools and validation.

Conservation and divergence of canonical and non-canonical imprinting in murids

The paper identifies imprinted genes in rat tissues, finds conservation of canonical imprints in embryos but divergence in extra-embryonic tissues, and discovers novel non-canonical imprints.

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

This study shows that reducing Ube3a-ATS with antisense oligonucleotides rescues EEG rhythms and sleep in Angelman syndrome mouse models, suggesting a broader therapeutic window than previously believed.