Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution

Am J Hum Genet. 2008 Feb;82(2):261-82. doi: 10.1016/j.ajhg.2007.11.009.


Since the discovery of the first human neocentromere in 1993, these spontaneous, ectopic centromeres have been shown to be an astonishing example of epigenetic change within the genome. Recent research has focused on the role of neocentromeres in evolution and speciation, as well as in disease development and the understanding of the organization and epigenetic maintenance of the centromere. Here, we review recent progress in these areas of research and the significant insights gained.

Publication types

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

MeSH terms

  • Centromere / genetics*
  • Centromere / physiology
  • Chromosome Aberrations*
  • Epigenesis, Genetic / genetics*
  • Evolution, Molecular*
  • Genetic Speciation
  • Humans
  • Neoplasms / genetics*