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The Past, Present, and Future of Human Centromere Genomics
Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
Division of Human Genetics, Duke University, Durham, NC 27710, USA
* Author to whom correspondence should be addressed.
Received: 9 December 2013; in revised form: 9 January 2014 / Accepted: 10 January 2014 / Published: 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
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Aldrup-MacDonald, M.E.; Sullivan, B.A. The Past, Present, and Future of Human Centromere Genomics. Genes 2014, 5, 33-50.
Aldrup-MacDonald ME, Sullivan BA. The Past, Present, and Future of Human Centromere Genomics. Genes. 2014; 5(1):33-50.
Aldrup-MacDonald, Megan E.; Sullivan, Beth A. 2014. "The Past, Present, and Future of Human Centromere Genomics." Genes 5, no. 1: 33-50.