Skip to main content
. 2014 Oct 3;3(5):699–706. doi: 10.1016/j.stemcr.2014.09.001

Figure 1.

Figure 1

CGG Expansion Size and Methylation State in FXS HESC Lines

(A) CGG expansion size and methylation state were determined by a methylation-sensitive Southern blot assay. This test distinguishes between unmethylated normal (2.8 kb), premutation (2.9–3.4 kb), and full-mutation alleles (3.4–5.8 kb) and their methylated equivalents, as indicated by 5.2 kb, 5.3–5.8 kb, and fragments larger than 5.8 kb, respectively. Full mutations were identified in nine different cell lines (including HEFX): four females and five males. Note that SZ-FX7, SZ-FX12 and LS-FX9 are mosaic for the full mutation (carry both full and premutations) and that most cell lines are aberrantly methylated (SZ-FX1,3,6,8,14 and LS-FX9). Xi patterns are observed within XX FXS cells.

(B) Schematic illustration of the regions analyzed next to the repeats (top) and the bisulfite pyrosequencing results for DNA methylation levels at CpG sites localized 5′ (16 CpGs) and 3′ (6 CpGs) to the CGGs (bottom).