Centromere studies in the era of 'telomere-to-telomere' genomics.
Centromere
Genomics
Long-read assembly
Satellite DNA
Telomere-to-telomere
Journal
Experimental cell research
ISSN: 1090-2422
Titre abrégé: Exp Cell Res
Pays: United States
ID NLM: 0373226
Informations de publication
Date de publication:
15 09 2020
15 09 2020
Historique:
received:
08
01
2020
revised:
23
05
2020
accepted:
30
05
2020
pubmed:
7
6
2020
medline:
28
1
2021
entrez:
7
6
2020
Statut:
ppublish
Résumé
We are entering into an exciting era of genomics where truly complete, high-quality assemblies of human chromosomes are available end-to-end, or from 'telomere-to-telomere' (T2T). This technological advance offers a new opportunity to include endogenous human centromeric regions in high-resolution, sequence-based studies. These emerging reference maps are expected to reveal a new functional landscape in the human genome, where centromere proteins, transcriptional regulation, and spatial organization can be examined with base-level resolution across different stages of development and disease. Such studies will depend on innovative assembly methods of extremely long tandem repeats (ETRs), or satellite DNAs, paired with the development of new, orthogonal validation methods to ensure accuracy and completeness. This review reflects the progress in centromere genomics, credited by recent advancements in long-read sequencing and assembly methods. In doing so, I will discuss the challenges that remain and the promise for a new period of scientific discovery for satellite DNA biology and centromere function.
Identifiants
pubmed: 32504677
pii: S0014-4827(20)30374-8
doi: 10.1016/j.yexcr.2020.112127
pmc: PMC8284601
mid: NIHMS1719074
pii:
doi:
Substances chimiques
DNA, Satellite
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
112127Subventions
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : R21 HG010548
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Informations de copyright
Copyright © 2020. Published by Elsevier Inc.
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