Review Article

Partial gene duplication as a cause of human disease

  1. Xiuyuan Hu,
  2. Ronald G. Worton*

Article first published online: 1 JUN 2005

DOI: 10.1002/humu.1380010103

Issue

Human Mutation

Human Mutation

Volume 1, Issue 1, pages 3–12, 1992

Additional Information

How to Cite

Hu, X. and Worton, R. G. (1992), Partial gene duplication as a cause of human disease. Human Mutation, 1: 3–12. doi: 10.1002/humu.1380010103

Author Information

  1. Genetics Department and Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada and Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada

*Genetics Department and Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada, and Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada

Publication History

  1. Issue published online: 1 JUN 2005
  2. Article first published online: 1 JUN 2005
  3. Manuscript Accepted: 10 MAR 1992
  4. Manuscript Received: 19 FEB 1992

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (902K)

Keywords:

  • Gene duplication;
  • HPRT;
  • LDL receptor;
  • Dystrophin;
  • α-Galactosidase A;
  • Factor VIII;
  • LPL;
  • Type II collagen;
  • C1 inhibitor;
  • β-Galactosidase;
  • Duchenne muscular dystrophy

Abstract

Tandem duplication of large regions of DNA, including duplication of whole genes, provides a substrate for genetic evolution. Tandem duplication of smaller regions involving parts of genes is now recognized as a contributor to the mutation spectrum that results in genetic disease. In this review, more than 30 unrelated partial gene duplications that have been implicated in the genesis of human genetic disease are presented and the pathogenic effects and frequency of such duplications are summarized. The mechanisms of duplication formation are analyzed with special emphasis on the molecular details of the nucleotide sequences at the duplication junctions. Evidence to date suggests that duplication may arise from either homologous (Alu—Alu) recombination or nonhomologous recombination, the latter possibly mediated by topoisomerases. For the dystrophin gene, in which most duplications have been identified, these recombination events are intrachromosomal, suggesting that unequal sister chromatid exchange is the major mechanism. © 1992 Wiley-Liss, Inc.

Get PDF (902K)