Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping.
Journal
PLoS genetics
ISSN: 1553-7404
Titre abrégé: PLoS Genet
Pays: United States
ID NLM: 101239074
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
01
08
2019
accepted:
15
10
2019
revised:
06
02
2020
pubmed:
28
1
2020
medline:
14
4
2020
entrez:
28
1
2020
Statut:
epublish
Résumé
Detailed comprehensive knowledge of the structures of individual long-range telomere-terminal haplotypes are needed to understand their impact on telomere function, and to delineate the population structure and evolution of subtelomere regions. However, the abundance of large evolutionarily recent segmental duplications and high levels of large structural variations have complicated both the mapping and sequence characterization of human subtelomere regions. Here, we use high throughput optical mapping of large single DNA molecules in nanochannel arrays for 154 human genomes from 26 populations to present a comprehensive look at human subtelomere structure and variation. The results catalog many novel long-range subtelomere haplotypes and determine the frequencies and contexts of specific subtelomeric duplicons on each chromosome arm, helping to clarify the currently ambiguous nature of many specific subtelomere structures as represented in the current reference sequence (HG38). The organization and content of some duplicons in subtelomeres appear to show both chromosome arm and population-specific trends. Based upon these trends we estimate a timeline for the spread of these duplication blocks.
Identifiants
pubmed: 31986135
doi: 10.1371/journal.pgen.1008347
pii: PGENETICS-D-19-01274
pmc: PMC7004388
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1008347Subventions
Organisme : NCI NIH HHS
ID : R01 CA140652
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG005946
Pays : United States
Organisme : NCI NIH HHS
ID : R21 CA177395
Pays : United States
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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