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Segmental duplications and the human genome

Part 2. Genomics

2.3. The Human Genome

Specialist Review

  1. Rhea U. Vallente1,
  2. Evan E. Eichler2

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g203205

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Vallente, R. U. and Eichler, E. E. 2005. Segmental duplications and the human genome. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 2:2.3:26.

Author Information

  1. 1

    Washington State University, School of Molecular Biosciences, Pullman, WA, USA

  2. 2

    University of Washington School of Medicine, Seattle, WA, USA

Publication History

  1. Published Online: 15 APR 2005

Abstract

Segmental duplications are a newly identified class of repetitive elements that consist of physically interspersed blocks of duplicated material in a genome. Initial sequence analysis of the human genome has shown that ∼5–6% of the genome is highly homologous sequences, ranging in size from a few to hundreds of kilobases. Closely located segmental duplications are one of the factors predisposing to the occurrence of genomic disorders and are one of the major driving forces in primate genome evolution, by acting as highly unstable hotspots for chromosomal rearrangements. A combination of computational, molecular, sequence, and cytogenetic methods has facilitated the detection and characterization of segmental duplications. Understanding the origin and propagation of segmental duplications will provide fundamental insight into how genes and genomes change during the course of time.

Keywords:

  • duplicon;
  • gene duplication;
  • genome evolution;
  • low-copy repeat;
  • mutation;
  • paralogous sequence variation;
  • pericentromeres;
  • primates;
  • segmental duplications;
  • subtelomeres;
  • human genome