Genetic Syndromes and Imprinting

Stem-cell modeling of cerebellar dysfunction of Angelman syndrome

This study uses stem cell-derived cerebellar organoids to model Angelman syndrome, revealing impaired development and neuronal dysfunction in cerebellar cells.

The elongation of Mest transcript into MestXL sustains, but does not initiate, the maternal allele bias of its convergent gene Copg2 during neurogenesis

The paper investigates the regulation of maternal allele bias in Copg2 during neurogenesis, showing it involves a two-step mechanism beyond MestXL-mediated interference.

Regulatory Mechanisms of Maternal Imprinting at the Dlk1-Dio3 Domain

The paper investigates regulatory mechanisms of maternal imprinting at the Dlk1-Dio3 domain, showing that loss of expression is more detrimental than gain and identifying active regulatory factors on the unmethylated maternal chromosome.

Molecular characterization of capulet2 reveals the importance of ANAPHASE PROMOTING COMPLEX 6 maternal expression in endosperm development

The paper investigates the gametophyte maternal effect mutant capulet2, showing APC6 is a maternally expressed imprinted gene critical for endosperm development.

INFLUENCE OF MOLECULAR GENETIC CLASSES ON BEHAVIOR IN PRADER-WILLI SYNDROME

This study examines the association between genetic subtypes and growth hormone treatment with behavioral disorders in Prader-Willi syndrome patients, finding no significant differences in ASD prevalence across genetic groups or treatment.

Elevated Delta Power in a Maternal UBE3A-Deletion Pig Model of Angelman Syndrome

The paper evaluates delta power abnormalities in a maternal UBE3A-deletion pig model of Angelman syndrome using EEG, finding elevated delta power during wakefulness and reduced transitions to sleep.

Periodic and aperiodic contributions to EEG delta power are translatable and complementary Angelman syndrome biomarkers

The paper identifies periodic and aperiodic components of EEG delta power as complementary biomarkers for Angelman syndrome in both humans and mice.

Parthenogenote-Derived Brain Unveils the Critical Role of Paternal Genome in Neural Development

This study uses a novel cell replacement strategy to show that the paternal genome is critical for neural development through Dlk1-mediated regulation of Notch signaling.

Limited directional selection but coevolutionary signals among imprinted genes in A. lyrata.

The paper investigates selection signals and coevolution among imprinted genes in Arabidopsis lyrata using phylogenetic and population genomic approaches, finding balancing selection and coevolution but limited directional selection.

An extensive and unbiased genome-wide scan for parent-of-origin expressed genes in the pig clarifies the conservation landscape of genomic imprinting

The paper identifies 440 parent-of-origin expressed genes in pigs, revealing weak conservation of genomic imprinting across species and tissues.

ZFP57 is a regulator of postnatal growth and life-long health

This study identifies ZFP57 as a regulator of postnatal growth and lifelong health by influencing mammary gland function and lactation, with effects on offspring metabolic syndrome.

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model

The paper uses single nuclei RNA-sequencing to identify cell-type-specific gene expression dysregulation in the frontal cortex of an Angelman syndrome pig model.

An allele-resolved nanopore-guided tour of the human placental methylome

The paper uses nanopore sequencing to analyze the methylome and transcriptome of human placental trios, identifying new differentially methylated regions and imprinted genes.

Magel2 in hypothalamic POMC neurons influences the impact of stress on anxiety-like behavior and spatial learning associated with a food reward in male mice

This study investigates how Magel2 gene deletion in hypothalamic POMC neurons affects stress-induced anxiety and spatial learning in male mice, revealing sex-specific behavioral impacts.

TET3 protects the Dlk1-Dio3 Imprinted Locus from DNA hypomethylation during adult NSC Reprogramming

The paper shows that TET3 protects the Dlk1-Dio3 imprinted locus from hypomethylation during iPSC reprogramming from neural stem cells.

Dysregulation of neuronal activity-dependent immediate early genes in a mouse model of Angelman syndrome

The paper identifies dysregulated immediate early genes in a mouse model of Angelman syndrome and links their down-regulation to impaired synaptic plasticity and behavioral deficits.

A Human Angelman Syndrome Class II Pluripotent Stem Cell line with Fluorescent Paternal UBE3A Reporter

This paper develops a human pluripotent stem cell line with a fluorescent UBE3A reporter to monitor paternal UBE3A expression during neuronal maturation and test reactivation strategies.

Dynamic allelic expression in mouse mammary gland across the adult developmental cycle

The paper provides an allelic expression map of the mouse mammary gland across 10 developmental stages, identifying imprinted genes and their cell-type-specific expression patterns.

Candidate imprinting control regions in dog genome

The paper identifies candidate imprinting control regions in the dog genome by analyzing CpG-rich motifs and comparing their positions to known ICRs in mouse and human genomes.

A new class of human CpG island promoters with primate-specific repeats

The paper identifies a new class of human CpG island promoters associated with primate-specific imperfect tandem repeats, showing methylation patterns and evolutionary implications.

A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition

This paper describes a pig model of Angelman syndrome that mirrors early developmental symptoms observed in humans.

MDR1 DNA glycosylase regulates the expression of genomically imprinted genes and helitrons

This study shows that MDR1 DNA glycosylase regulates maternally expressed imprinted genes and TEs in endosperm by demethylation, with two-thirds of MEGs showing DNG-dependent regulation.

Post-fertilization transcription initiation in an ancestral LTR retrotransposon drives lineage-specific genomic imprinting of ZDBF2

The paper shows that an ancestral LTR retrotransposon insertion in the common ancestor of Euarchontoglires drives lineage-specific genomic imprinting of ZDBF2 through post-fertilization transcription initiation.

Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction

This study uses single-nucleus multiomic analysis to reveal PPARA signaling enrichment and metabolic dysfunction in BWS liver.

Atlas of imprinted and allele-specific DNA methylation in the human body

The paper creates a comprehensive atlas of allele-specific DNA methylation across 39 human cell types, identifying 325k genomic regions and 460 novel imprinted loci with cell-type-specific patterns.

Conservation of imprinted expression across genotypes is correlated with consistency of imprinting across endosperm development in maize

The paper analyzes imprinted gene expression across multiple time points and genotypes in maize endosperm, finding a correlation between imprinting consistency over time and conservation across genotypes.

Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing

The paper uses CRISPR-based epigenome editing to activate the silenced maternal SNRPN gene in PWS iPSCs, showing that DNA demethylation can lead to stable expression.

Lineage-specific genomic imprinting in the ZNF791 locus

The paper identifies lineage-specific genomic imprinting in the ZNF791 locus in domesticated animals through whole-genome sequencing and comparative analysis across mammals.

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.