| Item type |
文献 / Documents(1) |
| 公開日 |
2022-02-21 |
| アクセス権 |
|
|
アクセス権 |
open access |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
|
|
関連識別子 |
https://doi.org/10.1186/s13059-022-02617-x |
|
|
関連名称 |
10.1186/s13059-022-02617-x |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
Genetic variation at mouse and human ribosomal DNA influences associated epigenetic states |
| 著者 |
Rodriguez‑Algarra, Francisco
Seaborne, Robert A. E.
Danson, Amy F.
Yildizoglu, Selin
𠮷川, 治孝
Law, Pui Pik
Ahmad, Zakaryya
Maudsley, Victoria A.
Brew, Ama
Holmes, Nadine
Ochôa, Mateus
Hodgkinson, Alan
Marzi, Sarah J.
Pradeepa, Madapura M.
Loose, Matthew
Holland, Michelle L.
Rakyan, Vardhman K.
|
| 抄録 |
|
|
内容記述 |
Background: Ribosomal DNA (rDNA) displays substantial inter-individual genetic variation in human and mouse. A systematic analysis of how this variation impacts epigenetic states and expression of the rDNA has thus far not been performed.
Results: Using a combination of long- and short-read sequencing, we establish that 45S rDNA units in the C57BL/6J mouse strain exist as distinct genetic haplotypes that influence the epigenetic state and transcriptional output of any given unit. DNA methylation dynamics at these haplotypes are dichotomous and life-stage specific: at one haplotype, the DNA methylation state is sensitive to the in utero environment, but refractory to post-weaning influences, whereas other haplotypes entropically gain DNA methylation during aging only. On the other hand, individual rDNA units in human show limited evidence of genetic haplotypes, and hence little discernible correlation between genetic and epigenetic states. However, in both species, adjacent units show similar epigenetic profiles, and the overall epigenetic state at rDNA is strongly positively correlated with the total rDNA copy number. Analysis of different mouse inbred strains reveals that in some strains, such as 129S1/SvImJ, the rDNA copy number is only approximately 150 copies per diploid genome and DNA methylation levels are < 5%.
Conclusions: Our work demonstrates that rDNA-associated genetic variation has a considerable influence on rDNA epigenetic state and consequently rRNA expression outcomes. In the future, it will be important to consider the impact of inter-individual rDNA (epi)genetic variation on mammalian phenotypes and diseases. |
| 書誌情報 |
en : Genome Biology
巻 23,
p. 54,
発行日 2022-02-14
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| 収録物ID |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1474760X |
| 収録物ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA11697266 |
| 出版者 |
|
|
出版者 |
BioMed Central |
| 出版者 |
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|
出版者 |
Springer Nature |
| 権利情報 |
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|
権利情報 |
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
| EID |
|
|
識別子 |
384318 |
| 言語 |
|
|
言語 |
eng |
gb_23_54.pdf (22.5 MB)
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