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Figure 2 | Genome Biology

Figure 2

From: Non-imprinted allele-specific DNA methylation on human autosomes

Figure 2

Allele-specific methylation and expression of amplicons 23_1 and 23_2. (a) Example of ASM of amplicons 23_1 and 23_2 in the first exon of gene C21orf81. The figure shows the position of these two amplicons in the UCSC genome browser and the methylation pattern of alleles in both amplicons. Each row corresponds to one clone of bisulfite PCR products. Each column corresponds to one CpG site in the studied region. The color code indicates different methylation states of the CpG sites (blue, unmethylated; red, methylated; white, methylation state unknown). The clones in each amplicon were sorted according to their genotype at two SNPs (dbsnp rs56270809 on 23_2 and dbsnp rs2297246 on 23_1), the positions of which are indicated by an arrow. By sequencing of the genomic DNA we identified the haplotype of all samples with ASM to be either A/A or C/C as schematically shown in the lower part of the figure. Expression analysis showed that the gene is exclusively expressed from the unmethylated A allele (indicated by an asterisk) in leukocytes (data are shown from individual 11). (b) Compilation of results from all heterozygous individuals in amplicon 23_1. The individuals were sorted according to the decreasing methylation difference between alleles. Each row corresponds to a single allele from one individual. Each square represents the average methylation of a CpG site encoded in a continuous yellow to blue color code. The original methylation patterns of all samples with ASM are shown in Additional file 4. (c) Methylation level of each allele from all heterozygous individuals in amplicon 23_1. (d) Compilation of results from all heterozygous individuals in amplicon 23_2. The original methylation patterns of all samples with ASM are shown in Additional file 4. (e) Methylation level of each allele from all heterozygous individuals in amplicon 23_2.

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