Haplotype-resolved methylation profiling across three generations reveals principles of human epigenetic inheritance - PubMed
7 hours ago
- #Haplotype-resolved profiling
- #Epigenetic inheritance
- #DNA methylation
- Performed haplotype-resolved, whole-genome DNA methylation profiling in a three-generation Chinese family using long-read sequencing (ONT and PacBio HiFi) anchored to a T2T genome assembly.
- Found globally conserved bimodal methylation landscapes, with distinct hypomethylation in centromeres and hypermethylation in retrotransposons/repetitive elements.
- Identified domain-specific methylation patterns in rDNA arrays, showing hypomethylation in the transcriptional core and hypermethylation in the intergenic spacer, with age-associated epigenetic drift.
- Mapped 23 high-confidence imprinting control regions (ICRs) with parent-of-origin-specific methylation, overlapping known imprinted genes and enriched for regulatory elements.
- Uncovered sex- and allele-specific methylation patterns on the X chromosome linked to X inactivation dynamics, delineating principles of intergenerational epigenetic inheritance.