Genomic and functional variation of human centromeres.
Abstract
Centromeres are central to chromosome segregation and genome stability, and thus their
molecular foundations are important for understanding their function and the ways
in which they go awry. Human centromeres typically form at large megabase-sized arrays
of alpha satellite DNA for which there is little genomic understanding due to its
repetitive nature. Consequently, it has been difficult to achieve genome assemblies
at centromeres using traditional next generation sequencing approaches, so that centromeres
represent gaps in the current human genome assembly. The role of alpha satellite DNA
has been debated since centromeres can form, albeit rarely, on non-alpha satellite
DNA. Conversely, the simple presence of alpha satellite DNA is not sufficient for
centromere function since chromosomes with multiple alpha satellite arrays only exhibit
a single location of centromere assembly. Here, we discuss the organization of human
centromeres as well as genomic and functional variation in human centromere location,
and current understanding of the genomic and epigenetic mechanisms that underlie centromere
flexibility in humans.
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https://hdl.handle.net/10161/24766Published Version (Please cite this version)
10.1016/j.yexcr.2020.111896Publication Info
Sullivan, Lori L; & Sullivan, Beth A (2020). Genomic and functional variation of human centromeres. Experimental cell research, 389(2). pp. 111896. 10.1016/j.yexcr.2020.111896. Retrieved from https://hdl.handle.net/10161/24766.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Beth Ann Sullivan
James B. Duke Distinguished Professor
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.
The centromere is a specialized chromosomal site involved in chromosome architecture
and movement, and when defective, is linked to cancer, birth defects, and infertility.
The lab has described a unique type of chromatin (CEN chromatin) that forms exclusively
at the centromere by replacement of core histone H3 by the centrome

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