Journal of Clinical & Medical Genomics

Jiuyong Xie

Publications

• Review Article
  Making Use of Aberrant and Nonsense: Aberrant Splicing and Nonsense-Mediated Decay as Targets for Personalized Medicine
  Author(s): Jiuyong XieJiuyong Xie
  
  It is estimated that one-third of disease-causing mutations may induce aberrant splicing of pre-messenger RNA transcripts and a partially overlapping third to premature stop codons (PTC) and nonsense-mediated mRNA decay (NMD). In some diseases, the estimate even goes up to 50% and >70%, respectively. These highly prevalent effects of different mutations on mRNA processing have prompted much effort for the identification of compounds towards the therapy of a substantial number of diseases with mutation-specific, personalized medicine. Here I review the widespread occurrence of aberrant splicing, NMD and their association in human genetic diseases, and discuss the rationales underlying the corresponding therapeutic strategies and challenges. The ability to sequence and analyze the human genome and transcriptomes of various sources at speeds unimaginable more than 20 years ago.. Read More»
  DOI: 10.4172/2332-0672.1000105

  Abstract PDF