ČECHOVÁ, Monika and Karen H MIGA. Satellite DNAs and human sex chromosome variation. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2022, vol. 128, No 128, p. 15-25. ISSN 1084-9521. doi:10.1016/j.semcdb.2022.04.022.
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Basic information
Original name Satellite DNAs and human sex chromosome variation
Name in Czech Satelitní DNA a variace lidských pohlavních chromosomů
Authors ČECHOVÁ, Monika (203 Czech Republic, belonging to the institution) and Karen H MIGA (840 United States of America, guarantor).
Other information
Original language English
Type of outcome Article in a journal
Field of Study 10600 1.6 Biological sciences
Country of publisher Netherlands
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 7.499 in 2021
Organization unit Faculty of Informatics
Doi http://dx.doi.org/10.1016/j.semcdb.2022.04.022
UT WoS 000816909200003
Keywords (in Czech) Satelitní DNA; Centroméra; Aneuploidie; X-inaktivace; Pohlavní chromosomy
Keywords in English Satellite DNA; Centromere; Aneuploidy; X-inactivation; Sex chromosomes
Tags International impact, Reviewed
Changed by Changed by: Mgr. Monika Čechová, Ph.D., učo 256590. Changed: 5/9/2022 22:09.
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.
Abstract (in Czech)
Review článek o satelitní DNA a variaci lidských pohlavních chromosomů
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