Genomic and functional variation of human centromeres.

dc.contributor.author

Sullivan, Lori L

dc.contributor.author

Sullivan, Beth A

dc.date.accessioned

2022-04-01T14:32:28Z

dc.date.available

2022-04-01T14:32:28Z

dc.date.issued

2020-04

dc.date.updated

2022-04-01T14:32:28Z

dc.description.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.

dc.identifier

S0014-4827(20)30095-1

dc.identifier.issn

0014-4827

dc.identifier.issn

1090-2422

dc.identifier.uri

https://hdl.handle.net/10161/24766

dc.language

eng

dc.publisher

Elsevier BV

dc.relation.ispartof

Experimental cell research

dc.relation.isversionof

10.1016/j.yexcr.2020.111896

dc.subject

Centromere

dc.subject

Chromatin

dc.subject

Animals

dc.subject

Humans

dc.subject

Genomic Instability

dc.subject

Chromosome Segregation

dc.subject

Meiosis

dc.subject

Genome

dc.title

Genomic and functional variation of human centromeres.

dc.type

Journal article

duke.contributor.orcid

Sullivan, Beth A|0000-0001-5216-4603

pubs.begin-page

111896

pubs.issue

2

pubs.organisational-group

Duke

pubs.organisational-group

School of Medicine

pubs.organisational-group

Basic Science Departments

pubs.organisational-group

Institutes and Centers

pubs.organisational-group

Molecular Genetics and Microbiology

pubs.organisational-group

Duke Cancer Institute

pubs.organisational-group

Institutes and Provost's Academic Units

pubs.organisational-group

Initiatives

pubs.organisational-group

Duke Science & Society

pubs.publication-status

Published

pubs.volume

389

Files

Original bundle

Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
Sullivan_Sullivan_ECR_2020.pdf
Size:
1.33 MB
Format:
Adobe Portable Document Format
Description:
Published version