Genomic and Epigenetic Foundations of Neocentromere Formation.

Journal Article (Journal Article;Review)

Centromeres are essential to genome inheritance, serving as the site of kinetochore assembly and coordinating chromosome segregation during cell division. Abnormal centromere function is associated with birth defects, infertility, and cancer. Normally, centromeres are assembled and maintained at the same chromosomal location. However, ectopic centromeres form spontaneously at new genomic locations and contribute to genome instability and developmental defects as well as to acquired and congenital human disease. Studies in model organisms have suggested that certain regions of the genome, including pericentromeres, heterochromatin, and regions of open chromatin or active transcription, support neocentromere activation. However, there is no universal mechanism that explains neocentromere formation. This review focuses on recent technological and intellectual advances in neocentromere research and proposes future areas of study. Understanding neocentromere biology will provide a better perspective on chromosome and genome organization and functional context for information generated from the Human Genome Project, ENCODE, and other large genomics consortia.

Full Text

Duke Authors

Cited Authors

  • DeBose-Scarlett, EM; Sullivan, BA

Published Date

  • November 23, 2021

Published In

Volume / Issue

  • 55 /

Start / End Page

  • 331 - 348

PubMed ID

  • 34496611

Electronic International Standard Serial Number (EISSN)

  • 1545-2948

Digital Object Identifier (DOI)

  • 10.1146/annurev-genet-071719-020924


  • eng

Conference Location

  • United States