Genetic Syndromes and Imprinting

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

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

The paper identifies epistatic gene interactions underlying parent-of-origin effects on metabolic traits in mice using reciprocal crosses and tissue-specific expression analysis.

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

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.

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

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.

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.

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.