Human centromere genomics: now it's personal

Chromosome Res. 2012 Jul;20(5):621-33. doi: 10.1007/s10577-012-9295-y.


Advances in human genomics have accelerated studies in evolution, disease, and cellular regulation. However, centromere sequences, defining the chromosomal interface with spindle microtubules, remain largely absent from ongoing genomic studies and disconnected from functional, genome-wide analyses. This disparity results from the challenge of predicting the linear order of multi-megabase-sized regions that are composed almost entirely of near-identical satellite DNA. Acknowledging these challenges, the field of human centromere genomics possesses the potential to rapidly advance given the availability of individual, or personalized, genome projects matched with the promise of long-read sequencing technologies. Here I review the current genomic model of human centromeres in consideration of those studies involving functional datasets that examine the role of sequence in centromere identity.

Publication types

  • Review

MeSH terms

  • Centromere / genetics
  • Centromere / metabolism*
  • Chromatin Assembly and Disassembly
  • Chromosome Duplication
  • Chromosome Mapping
  • Chromosomes, Human / genetics
  • Chromosomes, Human / metabolism*
  • DNA, Satellite / genetics
  • DNA, Satellite / metabolism
  • Evolution, Molecular
  • Genetics, Population / methods
  • Genome, Human*
  • Humans
  • Models, Genetic
  • Protein Interaction Mapping


  • DNA, Satellite