Segmental duplications: an 'expanding' role in genomic instability and disease

Nat Rev Genet. 2001 Oct;2(10):791-800. doi: 10.1038/35093500.


The knowledge that specific genetic diseases are caused by recurrent chromosomal aberrations has indicated that genomic instability might be directly related to the structure of the regions involved. The sequencing of the human genome has directed significant attention towards understanding the molecular basis of such recombination 'hot spots'. Segmental duplications have emerged as a significant factor in the aetiology of disorders that are caused by abnormal gene dosage. These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Angelman Syndrome / genetics
  • Charcot-Marie-Tooth Disease / genetics
  • Chromosome Aberrations
  • Chromosomes, Human / genetics
  • Chromosomes, Human / ultrastructure
  • Gene Deletion
  • Gene Dosage*
  • Gene Duplication*
  • Genetic Diseases, Inborn / genetics*
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Humans
  • Prader-Willi Syndrome / genetics
  • Recombination, Genetic
  • Repetitive Sequences, Nucleic Acid*
  • Translocation, Genetic