RNA processing and human disease

Cell Mol Life Sci. 2000 Feb;57(2):235-49. doi: 10.1007/PL00000687.


Gene expression involves multiple regulated steps leading from gene to active protein. Many of these steps involve some aspect of RNA processing. Diseases caused by mutations that directly affect RNA processing are relatively rare compared with mutations that disrupt protein function. The vast majority of diseases of RNA processing result from loss of function of a single gene due to mutations in cis-acting elements required for pre-messenger RNA (mRNA) splicing. However, a few diseases are caused by alterations in the trans-acting factors required for RNA processing and in the vast majority of cases it is the pre-mRNA splicing machinery that is affected. Clearly, alterations that disrupt splicing of pre-mRNAs from large numbers of genes would be lethal at the cellular level. A common theme among these diseases is that only subsets of genes are affected. This is consistent with an emerging view that different subsets of exons require different sets of cis-acting elements and trans-acting factors.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Alternative Splicing / genetics
  • Base Sequence
  • Genes, Wilms Tumor / genetics
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Hyaluronan Receptors / genetics
  • Microtubule-Associated Proteins / genetics
  • Myotonic Dystrophy / genetics
  • RNA Precursors / genetics*
  • RNA Precursors / metabolism*
  • RNA Processing, Post-Transcriptional / genetics*
  • Spinal Cord Diseases / genetics
  • tau Proteins


  • Hyaluronan Receptors
  • MAPT protein, human
  • Microtubule-Associated Proteins
  • RNA Precursors
  • tau Proteins