Satellite DNAs and human sex chromosome variation.
Aneuploidy
Centromere
Satellite DNA
Sex chromosomes
X-inactivation
Journal
Seminars in cell & developmental biology
ISSN: 1096-3634
Titre abrégé: Semin Cell Dev Biol
Pays: England
ID NLM: 9607332
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
received:
15
03
2022
revised:
26
04
2022
accepted:
27
04
2022
pubmed:
2
6
2022
medline:
22
6
2022
entrez:
1
6
2022
Statut:
ppublish
Résumé
Satellite DNAs are present on every chromosome in the cell and are typically enriched in repetitive, heterochromatic parts of the human genome. Sex chromosomes represent a unique genomic and epigenetic context. In this review, we first report what is known about satellite DNA biology on human X and Y chromosomes, including repeat content and organization, as well as satellite variation in typical euploid individuals. Then, we review sex chromosome aneuploidies that are among the most common types of aneuploidies in the general population, and are better tolerated than autosomal aneuploidies. This is demonstrated also by the fact that aging is associated with the loss of the X, and especially the Y chromosome. In addition, supernumerary sex chromosomes enable us to study general processes in a cell, such as analyzing heterochromatin dosage (i.e. additional Barr bodies and long heterochromatin arrays on Yq) and their downstream consequences. Finally, genomic and epigenetic organization and regulation of satellite DNA could influence chromosome stability and lead to aneuploidy. In this review, we argue that the complete annotation of satellite DNA on sex chromosomes in human, and especially in centromeric regions, will aid in explaining the prevalence and the consequences of sex chromosome aneuploidies.
Identifiants
pubmed: 35644878
pii: S1084-9521(22)00147-1
doi: 10.1016/j.semcdb.2022.04.022
pmc: PMC9233459
mid: NIHMS1817256
pii:
doi:
Substances chimiques
DNA, Satellite
0
Heterochromatin
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
15-25Subventions
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : R21 HG010548
Pays : United States
Informations de copyright
Copyright © 2022. Published by Elsevier Ltd.
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