Satellite DNAs and human sex chromosome variation.
Satellite DNAs and human sex chromosome variation.
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DOI：
10.1016/j.semcdb.2022.04.022
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发表时间：
2022-08
影响因子：
7.3
通讯作者：
Miga, Karen H.
中科院分区：
文献类型：
--
作者：
Cechova, Monika;Miga, Karen H.
卫星dna存在于细胞的每一条染色体上，通常富集于人类基因组的重复异色部分。性染色体代表了一个独特的基因组和表观遗传背景。在这篇综述中，我们首先报道了人类X和Y染色体上的卫星DNA生物学，包括重复序列的内容和组织，以及典型整倍体个体的卫星变异。然后，我们回顾了性染色体非整倍体是一般人群中最常见的非整倍体类型，并且比常染色体非整倍体具有更好的耐受性。衰老与X染色体，尤其是Y染色体的丧失有关，这一事实也证明了这一点。此外，多余的性染色体使我们能够研究细胞中的一般过程，例如分析异染色质剂量（即额外的Barr小体和Yq上的长异染色质阵列）及其下游后果。最后，卫星DNA的基因组和表观遗传组织和调控可能影响染色体的稳定性并导致非整倍体。在这篇综述中，我们认为完整的卫星DNA在人类性染色体上的注释，特别是在着丝粒区域，将有助于解释性染色体非整倍体的流行和后果。
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.
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影响因子：
14.9
作者：
Moseley SC;Rizkallah R;Tremblay DC;Anderson BR;Hurt MM;Chadwick BP
通讯作者：
Chadwick BP
影响因子：
48
作者：
Cartney, Ann M. Mc;Shafin, Kishwar;Alonge, Michael;Bzikadze, Andrey, V;Formenti, Giulio;Fungtammasan, Arkarachai;Howe, Kerstin;Jain, Chirag;Koren, Sergey;Logsdon, Glennis A.;Miga, Karen H.;Mikheenko, Alla;Paten, Benedict;Shumate, Alaina;Soto, Daniela C.;Sovic, Ivan;Wood, Jonathan Md;Zook, Justin M.;Phillippy, Adam M.;Rhie, Arang
通讯作者：
Rhie, Arang
影响因子：
3.5
作者：
Cechova M
通讯作者：
Cechova M
影响因子：
10.7
作者：
Cechova, Monika;Harris, Robert S.;Makova, Kateryna D.
通讯作者：
Makova, Kateryna D.
影响因子：
4
作者：
CHANDLEY, AC;GOSDEN, JR;MCBEATH, S
通讯作者：
MCBEATH, S