title: Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.
abstract: OBJECTIVE
  Identify epigenetic marks in the vicinity of DMPK (linked to myotonic dystrophy, DM1) that help explain tissue-specific differences in its expression.
  
  
  METHODS
  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.
  
  
  RESULTS
  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 were found near the DM1-linked CTG repeats within DMPK.
  
  
  CONCLUSIONS
  Tissue-specific epigenetic features in DMPK and neighboring genes help regulate its expression. G4 motifs in DMPK DNA and RNA might contribute to DM1 pathology.
authors.affiliation: Human Genetics Program, Tulane University Health Sciences Center, New Orleans, LA 70112, USA.
authors.forename: Lauren
authors.initials: L
authors.lastname: Buckley
authors.affiliation: Tulane Cancer Center & Department of Mathematics, Tulane University, New Orleans, LA 70112, USA.
authors.forename: Michelle
authors.initials: M
authors.lastname: Lacey
authors.affiliation: Human Genetics Program, Center for Bioinformatics & Genomics, Tulane Cancer Center, Tulane University Health Sciences Center, New Orleans, LA 70112, USA.
authors.forename: Melanie
authors.initials: M
authors.lastname: Ehrlich
mesh_terms: D002478:Cells, Cultured; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D018398:Homeodomain Proteins / Q000235:genetics*; D061307:Human Umbilical Vein Endothelial Cells; D006801:Humans; D032342:Muscle Cells / Q000166:cytology; D009223:Myotonic Dystrophy / Q000235:genetics; D065636:Myotonin-Protein Kinase / Q000737:chemistry / Q000235:genetics*; D009928:Organ Specificity; D011506:Proteins / Q000235:genetics*
chemical_list: C585517:DMPK protein, human; C081088:DMWD protein, human; D018398:Homeodomain Proteins; D011506:Proteins; C423968:RSPH6A protein, human; C106687:SIX5 protein, human; D065636:Myotonin-Protein Kinase
keywords: CTCF; DNA methylation; G-quadruplex; alternative promoters; enhancers; histone modification; muscle; myotonic dystrophy; sperm DNA; testis