Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation.

ABSTRACT: The methylation of cytosines in CpG dinucleotides is essential for cellular differentiation and the progression of many cancers, and it plays an important role in gametic imprinting. To assess variation and inheritance of genome-wide patterns of DNA methylation simultaneously in humans, we applied reduced representation bisulfite sequencing (RRBS) to somatic DNA from six members of a three-generation family. We observed that 8.1% of heterozygous SNPs are associated with differential methylation in cis, which provides a robust signature for Mendelian transmission and relatedness. The vast majority of differential methylation between homologous chromosomes (>92%) occurs on a particular haplotype as opposed to being associated with the gender of the parent of origin, indicating that genotype

SUBMITTER: Gertz J 

PROVIDER: S-EPMC3154961 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature