Satellite DNAs and human sex chromosome variation.

Publisher: Academic Press Country of Publication: England NLM ID: 9607332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-3634 (Electronic) Linking ISSN: 10849521 NLM ISO Abbreviation: Semin Cell Dev Biol Subsets: MEDLINE

Publication: London : Academic Press
Original Publication: London, UK : Academic Press, c1996-

DNA, Satellite*/genetics ; Heterochromatin*/genetics; Aneuploidy ; Centromere/genetics ; Chromosomes, Human ; Humans ; Sex Chromosomes/genetics

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.
(Copyright © 2022. Published by Elsevier Ltd.)

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R01 HG011274 United States HG NHGRI NIH HHS; R21 HG010548 United States HG NHGRI NIH HHS

Keywords: Aneuploidy; Centromere; Satellite DNA; Sex chromosomes; X-inactivation

0 (DNA, Satellite)
0 (Heterochromatin)

Date Created: 20220601 Date Completed: 20220620 Latest Revision: 20240830

20240830

PMC9233459

10.1016/j.semcdb.2022.04.022

35644878