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Alternatively Spliced Genes

  1. Jane Y. Wu1,2,
  2. Liya Yuan1,
  3. Necat Havlioglu1

Published Online: 15 SEP 2006

DOI: 10.1002/3527600906.mcb.200300189

Encyclopedia of Molecular Cell Biology and Molecular Medicine

Encyclopedia of Molecular Cell Biology and Molecular Medicine

How to Cite

Wu, J. Y., Yuan, L. and Havlioglu, N. 2006. Alternatively Spliced Genes. Encyclopedia of Molecular Cell Biology and Molecular Medicine. .

Author Information

  1. 1

    Washington University School of Medicine, St. Louis, MO, USA

  2. 2

    John F. Kennedy Vanderbilt University Medical Center, Departments of Pediatrics, Cell and Developmental Biology and Pharmacology, Nashville, TN, USA

Publication History

  1. Published Online: 15 SEP 2006

Abstract

An important step of eukaryotic gene expression is pre-mRNA splicing, the process of removing intervening sequences (introns) from the nascent transcript (messenger RNA precursor, or pre-mRNA). The discovery of split genes in the viral genome and subsequent research in the field of pre-mRNA splicing have greatly advanced our understanding of mammalian gene regulation. Studies on pre-mRNA splicing have also facilitated sequence analyses of the human genome. With the completion of human genome sequencing, it is now further appreciated that pre-mRNA splicing and alternative splicing play critical roles in regulating gene expression and in enhancing genetic diversity.

Evolutionarily, the basic machinery for pre-mRNA splicing appears to be highly conserved among different species of metazoans. In Saccharomyces cerevisiae, although only a small percentage of genes undergo splicing, more than 100 genes have been identified that are either dedicated to or involved in pre-mRNA splicing. In mammals, pre-mRNA splicing is a crucial step for gene expression because the vast majority of mammalian transcription units contain one or more introns that must be accurately removed to form mature and functional messenger RNA (mRNA) species. In this chapter, we review the current knowledge about mammalian pre-mRNA splicing, with special emphasis on the aspects related to the pathogenesis or treatment of human diseases.

Keywords:

  • Pre-mRNA;
  • Exon;
  • Intron;
  • Pre-mRNA Splicing;
  • UsnRNPs;
  • Spliceosome;
  • 5 and 3 Splice Sites;
  • Alternative Splicing;
  • Splicing Regulatory Elements;
  • Splicing Regulators