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The implications of alternative splicing in the ENCODE protein complement.

Michael L Tress1, Pier Luigi Martelli, Adam Frankish

  • 1Structural Computational Biology Programme, Spanish National Cancer Research Centre, E-28029 Madrid, Spain. mtress@cnio.es

Proceedings of the National Academy of Sciences of the United States of America
|March 21, 2007
PubMed
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This summary is machine-generated.

Alternative splicing in human genes is common and produces proteins with different structures and functions. However, most alternative isoforms likely do not serve as functional proteins.

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Alternative pre-messenger RNA splicing allows genes to produce multiple products, potentially explaining human gene and functional complexity.
  • Splicing within protein-coding regions can alter or create new protein functions.

Purpose of the Study:

  • To investigate alternatively spliced gene products identified in the ENCODE pilot project.
  • To determine the frequency and functional implications of alternative splicing in human genes.

Main Methods:

  • Analysis of annotated alternatively spliced gene products from the ENCODE pilot project.
  • Comparative analysis of the structure and function of alternatively spliced isoforms versus constitutively spliced counterparts.

Main Results:

Related Experiment Videos

  • Alternative splicing is more frequent in human genes than previously thought.
  • Many alternative isoforms exhibit significantly different structures and functions compared to constitutive forms.
  • Limited evidence suggests a functional role for the majority of identified alternative isoforms as proteins.

Conclusions:

  • Alternative splicing significantly increases protein diversity but may not substantially expand the repertoire of conventional protein functions.
  • The functional relevance of most alternative splicing events remains to be elucidated.