Genomic and functional variation of human centromeres.

Journal Article (Journal Article;Review)

Centromeres are central to chromosome segregation and genome stability, and thus their molecular foundations are important for understanding their function and the ways in which they go awry. Human centromeres typically form at large megabase-sized arrays of alpha satellite DNA for which there is little genomic understanding due to its repetitive nature. Consequently, it has been difficult to achieve genome assemblies at centromeres using traditional next generation sequencing approaches, so that centromeres represent gaps in the current human genome assembly. The role of alpha satellite DNA has been debated since centromeres can form, albeit rarely, on non-alpha satellite DNA. Conversely, the simple presence of alpha satellite DNA is not sufficient for centromere function since chromosomes with multiple alpha satellite arrays only exhibit a single location of centromere assembly. Here, we discuss the organization of human centromeres as well as genomic and functional variation in human centromere location, and current understanding of the genomic and epigenetic mechanisms that underlie centromere flexibility in humans.

Full Text

Duke Authors

Cited Authors

  • Sullivan, LL; Sullivan, BA

Published Date

  • April 15, 2020

Published In

Volume / Issue

  • 389 / 2

Start / End Page

  • 111896 -

PubMed ID

  • 32035947

Pubmed Central ID

  • PMC7140587

Electronic International Standard Serial Number (EISSN)

  • 1090-2422

Digital Object Identifier (DOI)

  • 10.1016/j.yexcr.2020.111896


  • eng

Conference Location

  • United States