The past, present, and future of human centromere genomics.

Journal Article (Journal Article)

The centromere is the chromosomal locus essential for chromosome inheritance and genome stability. Human centromeres are located at repetitive alpha satellite DNA arrays that compose approximately 5% of the genome. Contiguous alpha satellite DNA sequence is absent from the assembled reference genome, limiting current understanding of centromere organization and function. Here, we review the progress in centromere genomics spanning the discovery of the sequence to its molecular characterization and the work done during the Human Genome Project era to elucidate alpha satellite structure and sequence variation. We discuss exciting recent advances in alpha satellite sequence assembly that have provided important insight into the abundance and complex organization of this sequence on human chromosomes. In light of these new findings, we offer perspectives for future studies of human centromere assembly and function.

Full Text

Duke Authors

Cited Authors

  • Aldrup-Macdonald, ME; Sullivan, BA

Published Date

  • January 24, 2014

Published In

Volume / Issue

  • 5 / 1

Start / End Page

  • 33 - 50

PubMed ID

  • 24683489

Pubmed Central ID

  • PMC3966626

International Standard Serial Number (ISSN)

  • 2073-4425

Digital Object Identifier (DOI)

  • 10.3390/genes5010033


  • eng

Conference Location

  • Switzerland