{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Buckley L"],"funding":["supported in part by a grant from the NIH to M Ehrlich","NINDS NIH HHS","NIGMS NIH HHS"],"pagination":["13-31"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4863877"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(1)"],"pubmed_abstract":["<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 w"],"journal":["Epigenomics"],"pubmed_title":["Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood."],"pmcid":["PMC4863877"],"funding_grant_id":["NS04885","P20GM103518","P20 GM103518"],"pubmed_authors":["Ehrlich M","Lacey M","Buckley L"],"additional_accession":[]},"is_claimable":false,"name":"Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.","description":"<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 w","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jan","modification":"2026-05-30T07:16:29.246Z","creation":"2019-03-27T02:13:29Z"},"accession":"S-EPMC4863877","cross_references":{"pubmed":["26756355"],"doi":["10.2217/epi.15.104"]}}