Abstract

Single-nucleotide polymorphisms located within CpG islands are found to cause differences in CpG methylation between alleles, reflecting differences in gene expression.

Highlights

  • Differential DNA methylation between alleles is well established in imprinted genes and the X chromosomes in females but has rarely been reported at non-imprinted loci on autosomes

  • Genome Biology 2009, Volume 10, Issue 12, Article R138 Zhang et al R138.2 reports about allele-specific methylation (ASM) on autosomes not connected to the parental inheritance of the alleles [8,9,10]

  • We discovered ASM of three cytosine-guanine dinucleotide (CpG)-rich regions in gene promoters in leukocyte DNA derived from a healthy individual using bisulfite conversion, subcloning and sequencing [12]

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Summary

Introduction

Differential DNA methylation between alleles is well established in imprinted genes and the X chromosomes in females but has rarely been reported at non-imprinted loci on autosomes. Differential DNA methylation between alleles occurs in imprinted genes [4,5] and on the female X chromosomes [6,7]. We discovered ASM of three cytosine-guanine dinucleotide (CpG)-rich regions in gene promoters in leukocyte DNA derived from a healthy individual using bisulfite conversion, subcloning and sequencing [12]. We studied the methylation pattern of 16 CpG-rich regions in gene promoters of chromosome 21 in up to 38 individuals by bisulfite conversion, subcloning and sequencing of individual clones. We checked the inter-individual DNA methylation difference at these gene promoters with respect to a potential link to age and gender differences

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