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Figure 2 | Clinical Epigenetics

Figure 2

From: Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

Figure 2

Specific DNA methylation analysis of the FSHD-associated distal 4q D4Z4 repeat unit on A-type subtelomeres by BSS sequencing. (A) Schematic representations of D4Z4 arrays on 4q and 10q chromosomes. Healthy unaffected individuals have any combination of two of the non-contracted 4q chromosomes; FSHD1 is not associated with 4qB or 10qA chromosomes. FSHD1-affected and nonmanifesting subjects have at least one contracted 4qA array and are distinguished clinically by disease presentation. The regions assayed by BSS are indicated as follows: 4qA BSS assay (blue bars), 4qA-L BSS assay (orange bars), and DUX4 5′ BSS assay (green bars). B = BsaAI and F = FseI restriction sites often used for DNA methylation analysis. (B) Schematic of the distal 4qA (upper) and 4qA-L (lower) D4Z4 RUs analyzed in this study. Black arrows indicate PCR primer locations and red Xs indicate five sequence changes between 4A and 10A within the primers. Rare 10qA products can be amplified in the 4qA BSS assay if PCR primers degrade; however, these are clearly identified by sequence polymorphisms (purple Xs) and removed from analysis.

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