The past, present, and future of human centromere genomics.
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.
Type
Journal articleSubject
CENPalpha satellite
chromosome truncation
dicentric
heterochromatin
higher order repeat
human artificial chromosome
tet operon
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Beth Ann Sullivan
Professor of Molecular Genetics and Microbiology
Research in the Sullivan Lab is focused on chromosome organization, with a specific
emphasis on the genomics and epigenetics of the chromosomal locus called the centromere
and the formation and fate of chromosome abnormalities that are associated with birth
defects, reproductive abnormalities, and cancer. The centromere is a specialized chromosomal
site involved in chromosome architecture and movement, kinetochore function, heterochromatin
assembly, and sister chromatid cohesion.Our

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