α satellite DNA variation and function of the human centromere.

Journal Article (Journal Article)

Genomic variation is a source of functional diversity that is typically studied in genic and non-coding regulatory regions. However, the extent of variation within noncoding portions of the human genome, particularly highly repetitive regions, and the functional consequences are not well understood. Satellite DNA, including α satellite DNA found at human centromeres, comprises up to 10% of the genome, but is difficult to study because its repetitive nature hinders contiguous sequence assemblies. We recently described variation within α satellite DNA that affects centromere function. On human chromosome 17 (HSA17), we showed that size and sequence polymorphisms within primary array D17Z1 are associated with chromosome aneuploidy and defective centromere architecture. However, HSA17 can counteract this instability by assembling the centromere at a second, "backup" array lacking variation. Here, we discuss our findings in a broader context of human centromere assembly, and highlight areas of future study to uncover links between genomic and epigenetic features of human centromeres.

Full Text

Duke Authors

Cited Authors

  • Sullivan, LL; Chew, K; Sullivan, BA

Published Date

  • July 4, 2017

Published In

Volume / Issue

  • 8 / 4

Start / End Page

  • 331 - 339

PubMed ID

  • 28406740

Pubmed Central ID

  • 28406740

Electronic International Standard Serial Number (EISSN)

  • 1949-1042

Digital Object Identifier (DOI)

  • 10.1080/19491034.2017.1308989

Language

  • eng

Conference Location

  • United States