Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood

@article{Buckley2016EpigeneticsOT,
  title={Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood},
  author={L. Buckley and M. Lacey and M. Ehrlich},
  journal={Epigenomics},
  year={2016},
  volume={8},
  pages={13 - 31}
}
  • L. Buckley, M. Lacey, M. Ehrlich
  • Published 2016
  • Biology, Medicine
  • Epigenomics
  • Aim: Identify epigenetic marks in the vicinity of DMPK (linked to myotonic dystrophy, DM1) that help explain tissue-specific differences in its expression. Materials & 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… CONTINUE READING
    14 Citations
    Molecular genetics of congenital myotonic dystrophy
    • 6
    • Highly Influenced
    Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.
    • 3
    CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
    • 35
    • Highly Influenced
    CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing
    • 73
    • PDF

    References

    SHOWING 1-10 OF 81 REFERENCES
    Tissue-specific epigenetics in gene neighborhoods: myogenic transcription factor genes.
    • 18
    • PDF
    In situ hybridization analysis of Dmpk mRNA in adult mouse tissues
    • 32
    Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics
    • A. Chau, A. Kalsotra
    • Biology, Medicine
    • Developmental dynamics : an official publication of the American Association of Anatomists
    • 2015
    • 43
    • PDF
    A role for myotonic dystrophy protein kinase in synaptic plasticity.
    • 19
    • PDF