Satellite DNAs and human sex chromosome variation

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14330%2F22%3A00125958" target="_blank" >RIV/00216224:14330/22:00125958 - isvavai.cz</a>

Result on the web

<a href="https://www.sciencedirect.com/science/article/pii/S1084952122001471" target="_blank" >https://www.sciencedirect.com/science/article/pii/S1084952122001471</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.semcdb.2022.04.022" target="_blank" >10.1016/j.semcdb.2022.04.022</a>

Result language

angličtina

Original language name

Satellite DNAs and human sex chromosome variation

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10600 - Biological sciences

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

SEMINARS IN CELL &amp; DEVELOPMENTAL BIOLOGY

ISSN

1084-9521

e-ISSN

—

Volume of the periodical

128

Issue of the periodical within the volume

128

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

11

Pages from-to

15-25

UT code for WoS article

000816909200003

EID of the result in the Scopus database

2-s2.0-85130944611