Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Nov 15;30(8):980–983. doi: 10.1038/s41431-021-00999-3

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 1 — A Graphic illustration of the human DM1 locus, including DMWD, DMPK, and SIX5 genes. Indicated in detail the differentially methylated region (DMR) upstream to the CTG repeats. Dashed line in orange designates the amplicon that was used for the methylation analysis in this study covering SNP rs635299 (G/T), while dashed line in gray designates the amplicon that was used for the methylation analysis in Barbe et al. [14]. CTCF1 binding site is designated by green ellipse. The numbering represents chromosome 19 positioning according to the hg19 human genome assembly. B Absolute methylation levels in region E (488–777 bp upstream of the CTGs), as determined by bisulfite pyrosequencing. The 13 CpG sites tested are indicated by shaded squares according to methylation levels (see colored legend). Mean absolute methylation levels across all tested CpG positions are indicated to the right in each line. C Allele-specific bisulfite sequencing of the expanded allele (CTG^EXP) within the differentially methylated region of DMPK (region E in [4]), overlapping SNP2 (according to [4]), in DNA extracted from sperm sample of patient A. Full circles correspond to methylated CpGs, whereas empty circles represent unmethylated CpGs. Methylation levels (%) were determined by the analysis of 20 molecules by bisulfite colony sequencing. Methylation levels (29%) are indicated at the bottom.