biostudies-literatureBuckley Lsupported in part by a grant from the NIH to M EhrlichNINDS NIH HHSNIGMS NIH HHS13-31https://www.ebi.ac.uk/biostudies/studies/S-EPMC4863877biostudies-literatureUnknown8(1)<h4>Aim</h4>Identify epigenetic marks in the vicinity of DMPK (linked to myotonic dystrophy, DM1) that help explain tissue-specific differences in its expression.<h4>Materials & methods</h4>At DMPK and its flanking genes (DMWD, SIX5, BHMG1 and RSPH6A), we analyzed many epigenetic and transcription profiles from myoblasts, myotubes, skeletal muscle, heart and 30 nonmuscle samples.<h4>Results</h4>In the DMPK gene neighborhood, muscle-associated DNA hypermethylation and hypomethylation, enhancer chromatin, and CTCF binding were seen. Myogenic DMPK hypermethylation correlated with high expression and decreased alternative promoter usage. Testis/sperm hypomethylation of BHMG1 and RSPH6A was associated with testis-specific expression. G-quadruplex (G4) motifs and sperm-specific hypomethylation wEpigenomicsEpigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.PMC4863877NS04885P20GM103518P20 GM103518Ehrlich MLacey MBuckley LfalseEpigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.<h4>Aim</h4>Identify epigenetic marks in the vicinity of DMPK (linked to myotonic dystrophy, DM1) that help explain tissue-specific differences in its expression.<h4>Materials & methods</h4>At DMPK and its flanking genes (DMWD, SIX5, BHMG1 and RSPH6A), we analyzed many epigenetic and transcription profiles from myoblasts, myotubes, skeletal muscle, heart and 30 nonmuscle samples.<h4>Results</h4>In the DMPK gene neighborhood, muscle-associated DNA hypermethylation and hypomethylation, enhancer chromatin, and CTCF binding were seen. Myogenic DMPK hypermethylation correlated with high expression and decreased alternative promoter usage. Testis/sperm hypomethylation of BHMG1 and RSPH6A was associated with testis-specific expression. G-quadruplex (G4) motifs and sperm-specific hypomethylation w2016-01-01T00:00:00Z2016 Jan2026-05-30T07:16:29.246Z2019-03-27T02:13:29ZS-EPMC48638772675635510.2217/epi.15.104