• Corpus ID: 55235067

UPF 1 DUX NMD in Facioscapulohumeral Muscular Dystrophy

  title={UPF 1 DUX NMD in Facioscapulohumeral Muscular Dystrophy},
  • Published 2015
  • Biology
Next generation sequencing has revolutionized the field of human genetics, and discovery of disease causing mutations continues at an accelerated pace. However, for some human diseases, knowledge of the genetic mutation is not sufficient to resolve disease etiology. One such example is facioscapulohumeral muscular dystrophy (FSHD), an adult-onset muscular dystrophy characterized by progressive weakness in a subset of skeletal muscle groups of the upper body, namely ones in the face, shoulders… 


A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy
It is reported that DUX4-triggered proteolytic degradation of UPF1, a central component of the nonsense-mediated decay (NMD) machinery, is associated with profound NMD inhibition, resulting in global accumulation of RNAs normally degraded as NMD substrates.
DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis
A role for DUX4 and repetitive elements in mammalian germline evolution and in FSHD muscular dystrophy is demonstrated and mobilization of MaLR and ERV elements during mammalian evolution altered germline gene expression patterns through transcriptional activation by Dux4.