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Human centromere repositioning "in progress".

David J Amor1, Karen Bentley, Jacinta Ryan

  • 1Murdoch Children's Research Institute and Department of Paediatrics, Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Victoria 3052, Australia.

Proceedings of the National Academy of Sciences of the United States of America
|April 16, 2004
PubMed
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Centromere repositioning, a driver of speciation, was observed in a family where chromosome 4 activity moved to a new site. This epigenetic neocentromere formation shows a mechanism for karyotype evolution in humans.

Area of Science:

  • Genetics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • Centromere repositioning is a key evolutionary mechanism for speciation, but its underlying processes are not fully understood.
  • A proposed model involves inactivating an existing centromere and forming a new one at a non-centromeric site with minimal negative effects.

Purpose of the Study:

  • To investigate the mechanisms of centromere repositioning and its role in karyotype evolution.
  • To analyze a family exhibiting centromere relocation on chromosome 4 to a euchromatic site.

Main Methods:

  • Karyotyping and molecular analysis of a two-generation family with a relocated centromere on chromosome 4.
  • Epigenetic analysis of the original and neocentromere, including protein binding assays (CENP-A, CENP-C, etc.) and histone deacetylase inhibition.

Related Experiment Videos

  • Assessment of mitotic and meiotic stability of the rearranged chromosome.

    • Main Results:

    • A neocentromere formed epigenetically at 4q21.3, with the original centromere inactivated despite retaining alpha-satellite DNA.
    • The neocentromere bound essential centromere proteins but showed reduced CENP-A binding and sister-chromatid cohesion compared to typical centromeres.
    • The pseudodicentric-neocentric chromosome was mitotically and meiotically stable and transmitted through two generations in healthy individuals.

    Conclusions:

    • Epigenetic neocentromere formation provides a mechanism for human centromere repositioning and ongoing karyotype evolution.
    • This process can occur in euchromatic regions, suggesting inherent flexibility in centromere formation.
    • The findings have implications for understanding meiotic drive and the evolution of primates and other species.