The activatory long non-coding RNA DBE-T reveals the epigenetic etiology of facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder often considered to be the third most common muscular dystrophy. Deletions reducing the copy number of the D4Z4 repeat in the distal end of the 4q arm are the main genetic cause of the disease. The recently highlighted research has identified a transcriptional activatory long non-coding RNA involved in the disease that acts through the recruitment of ASH1L, a protein belonging to the Trithorax family.
Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.
Miguel
M
Vizoso
Manel
M
Esteller
D002894:Chromosomes, Human, Pair 4; D004268:DNA-Binding Proteins / Q000378:metabolism; D057890:Epigenomics; D011495:Histone-Lysine N-Methyltransferase; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000209:etiology / Q000235:genetics*; D062085:RNA, Long Noncoding / Q000378:metabolism*; D020080:Tandem Repeat Sequences; D014157:Transcription Factors / Q000378:metabolism
D004268:DNA-Binding Proteins; C121257:DUX4L1 protein, human; D018398:Homeodomain Proteins; D062085:RNA, Long Noncoding; D014157:Transcription Factors; C490911:ASH1L protein, human; D011495:Histone-Lysine N-Methyltransferase