O passado, presente, e o futuro da genômica do centrômero humano

segunda-feira, setembro 14, 2015

The Past, Present, and Future of Human Centromere Genomics

Megan E. Aldrup-MacDonald 1,2 and Beth A. Sullivan 1,2,*

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)


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

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.