FIG. 5.
Summary of the methylation status of Gnas exons 1 and 1A. Methylation of the maternal (Mat) and paternal (Pat) alleles at all sites which we examined are summarized (filled boxes, methylated; open boxes, unmethylated; half-filled boxes, partially methylated). The pSHY46 insert is shown as a solid line, with the region upstream of pSHY46 shown as a broken line. Exons 1A and 1 are shown as grey and white rectangles, respectively. A scale demonstrating positions (in base pairs) relative to the GSα translational start site (ATG) in exon 1 is shown below. The unmethylated GSα promoter and exon 1 and differentially methylated exon 1A region are delineated above. The region analyzed by bisulfite-modified genomic sequencing (as shown in Fig. 6) is delineated with a horizontal line. The GC content (expressed as a percentage) and CpG dinucleotide frequency (expressed as a ratio of observed (Ob)/expected (Ex) is shown graphically below. These were generated with the Genetics Computer Group software package using a 100-base window.