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Alternative splicing in humans

Part 4. Bioinformatics

4.2. Gene Finding and Gene Structure

Short Specialist Review

  1. John G. Conboy,
  2. Inna Dubchak

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g402305

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Conboy, J. G. and Dubchak, I. 2005. Alternative splicing in humans. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 4:4.2:23.

Author Information

  1. Lawrence Berkeley National Laboratory, Berkeley, CA, USA

Publication History

  1. Published Online: 15 APR 2005

Abstract

Alternative pre-mRNA splicing is the mechanism by which a cell fine-tunes gene expression, by deciding what discrete segments of a gene's total coding information should be selected for expression in a specific cell type. The phenomenon of multiple alternative splicing pathways in the human genome, and the opportunity to regulate these pathways during development, allows a relatively small number of genes to encode a complex proteome in tissue-specific patterns. Individual splicing decisions are controlled by interplay among splicing regulatory proteins, acting at specific enhancer and silencer sequences in the pre-mRNA, and the catalytic machinery known as the spliceosome. Proper splicing regulation is a critical aspect of gene expression during normal human development, and derangements in this process are responsible for many human diseases. Recent advances in genome sequencing, gene expression profiling, bioinformatics, and biochemical analysis of the splicing machinery give hope that the rules by which splicing regulatory networks govern alternative splicing in humans will be deduced.

Keywords:

  • alternative splicing;
  • regulation;
  • splicing enhancer;
  • silence;
  • disease