Next Article in Journal / Special Issue
Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes
Previous Article in Journal / Special Issue
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
Article Menu

Export Article

Open AccessReview
Genes 2014, 5(1), 33-50; doi:10.3390/genes5010033

The Past, Present, and Future of Human Centromere Genomics

1
Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
2
Division of Human Genetics, Duke University, Durham, NC 27710, USA
*
Author to whom correspondence should be addressed.
Received: 9 December 2013 / Revised: 9 January 2014 / Accepted: 10 January 2014 / Published: 23 January 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
View Full-Text   |   Download PDF [1572 KB, uploaded 23 January 2014]   |  

Abstract

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.
Keywords: alpha satellite; higher order repeat; CENP; heterochromatin; human artificial chromosome; dicentric; chromosome truncation; transcription; tet operon alpha satellite; higher order repeat; CENP; heterochromatin; human artificial chromosome; dicentric; chromosome truncation; transcription; tet operon
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Aldrup-MacDonald, M.E.; Sullivan, B.A. The Past, Present, and Future of Human Centromere Genomics. Genes 2014, 5, 33-50.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top