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@article{1858800,
author = {Čechová, Monika and Miga, Karen H},
article_location = {LONDON},
article_number = {128},
doi = {http://dx.doi.org/10.1016/j.semcdb.2022.04.022},
keywords = {Satellite DNA; Centromere; Aneuploidy; X-inactivation; Sex chromosomes},
language = {eng},
issn = {1084-9521},
journal = {SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY},
title = {Satellite DNAs and human sex chromosome variation},
url = {https://www.sciencedirect.com/science/article/pii/S1084952122001471},
volume = {128},
year = {2022}
}
TY - JOUR
ID - 1858800
AU - Čechová, Monika - Miga, Karen H
PY - 2022
TI - Satellite DNAs and human sex chromosome variation
JF - SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
VL - 128
IS - 128
SP - 15-25
EP - 15-25
PB - ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
SN - 10849521
KW - Satellite DNA
KW - Centromere
KW - Aneuploidy
KW - X-inactivation
KW - Sex chromosomes
UR - https://www.sciencedirect.com/science/article/pii/S1084952122001471
N2 - 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.
ER -
ČECHOVÁ, Monika a Karen H MIGA. Satellite DNAs and human sex chromosome variation. \textit{SEMINARS IN CELL \&{}amp; DEVELOPMENTAL BIOLOGY}. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2022, roč.~128, č.~128, s.~15-25. ISSN~1084-9521. Dostupné z: https://dx.doi.org/10.1016/j.semcdb.2022.04.022.
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