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The role of nonsense-mediated decay in physiological and pathological processes

Part 2. Genomics

2.7. ESTs: Cancer Genes and the Anatomy Project

Short Specialist Review

  1. Jill A. Holbrook1,2,
  2. Gabriele Neu-Yilik1,2,
  3. Matthias W. Hentze2,3,
  4. Andreas E. Kulozik1,2

Published Online: 15 JUL 2005

DOI: 10.1002/047001153X.g207302

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Holbrook, J. A., Neu-Yilik, G., Hentze, M. W. and Kulozik, A. E. 2005. The role of nonsense-mediated decay in physiological and pathological processes. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 2:2.7:85.

Author Information

  1. 1

    University of Heidelberg, Heidelberg, Germany

  2. 2

    Molecular Medicine Partnership Unit, Heidelberg, Germany

  3. 3

    European Molecular Biology Laboratory, Heidelberg, Germany

Publication History

  1. Published Online: 15 JUL 2005

Abstract

In eukaryotes, a conserved surveillance pathway known as nonsense-mediated decay (NMD) regulates the abundance of mRNAs containing premature termination codons (PTCs), defined as in-frame stop codons located upstream of the physiological (i.e., normal) stop codon. PTCs often arise as the result of mutations but can also occur in normal transcripts as a result of physiological processes. NMD appears to have evolved as a means of both controlling expression of physiological (i.e., nonmutated) transcripts containing PTCs and of limiting production of protein from abnormal PTC-containing transcripts. The mechanism of NMD is described and its roles in normal cellular function and in some forms of genetic disease are discussed.

Keywords:

  • nonsense-mediated decay;
  • stop codon;
  • truncated protein;
  • nonsense mutation;
  • premature termination codon;
  • splicing;
  • genetic disease