Abstract
Differential methylation of the homologous chromosomes, a well-known mechanism leading to genomic imprinting and X-chromosome inactivation, is widely reported at the non-imprinted regions on autosomes. To evaluate the transgenerational DNA methylation patterns in human, we analyzed the DNA methylomes of somatic and germ cells in a four-generation family. We found that allelic asymmetry of DNA methylation was pervasive at the non-imprinted loci and was likely regulated by cis-acting genetic variants. We also observed that the allelic methylation patterns for the vast majority of the cis-regulated loci were shared between the somatic and germ cells from the same individual. These results demonstrated the interaction between genetic and epigenetic variations and suggested the possibility of widespread sequence-dependent transmission of DNA methylation during spermatogenesis.
Highlights
DNA methylation is one of the most important epigenetic marks that regulate the normal development and differentiation processes in human, and disturbance of DNA methylation is associated with various diseases[1,2,3]
Seven peripheral blood samples (PBSs) and two sperm samples were collected from the family members (Fig. 1) and genomic DNA was extracted from each sample for sequencing and genotyping analyses
It has becoming increasingly clear that asymmetry of DNA methylation between the two homologous chromosomes in human is pervasive at non-imprinted loci and is usually regulated by cis-acting genetic variants[4,5,6,13]
Summary
DNA methylation is one of the most important epigenetic marks that regulate the normal development and differentiation processes in human, and disturbance of DNA methylation is associated with various diseases[1,2,3]. Recent studies indicated that such type of allelic asymmetry of DNA methylation was likely to be more prevalent at non-imprinted loci on autosomes, and the methylation pattern of these loci was generally suspected to be associated with DNA sequence variants acting in cis[4,5,6]. It is largely unclear about the extent of allelic asymmetry of DNA methylation across the human genome. Sanger sequencing of the cloned bisulfite PCR products was performed on a number of genomic regions to validate the candidate ASM events
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