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

• DOI: 10.1038/s41467-025-57433-1
• Publication Date: 2025-03-11T10:07:59Z
• Authors: Jonathan Rosenski; Ayelet Peretz; Judith Magenheim; Netanel Loyfer; Ruth Shemer; Benjamin Glaser; Yuval Dor; Tommy Kaplan
• Keywords: Genomic Imprinting

Allele-specific DNA methylation reflects genetic variation and parentally-inherited changes, is involved in gene regulation pathologies. Yet, our knowledge of this phenomenon largely limited to blood. Here we present a comprehensive atlas allele-specific using deep whole-genome sequencing across 39 normal human cell types. We identified 325k regions, covering 6% the genome 11% CpGs, that show bimodal distribution methylated unmethylated molecules. In 34k these variations at individual alleles segregate with patterns, validating methylation. also 460 regions showing parental methylation, majority which are novel, as well 78 associated known imprinted genes. Surprisingly, sequence-dependent allele-dependent often restricted specific types, revealing unappreciated body. Finally, validate tissue-specific, maternal CHD7, offering potential mechanism for paternal bias inheritance mode CHARGE syndrome gene. The provides resource studying regulatory mechanisms underlying expression drives differences Here, authors uncover hundreds ubiquitous tissue-specific differentially insights into disease inheritance.