Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development

Hu, Yajie; Mizuguchi, Kenji; Hashimoto, Kosuke

Scientific Reports, 2025, 15, 26770

Number of Access:11（2025-09-29 10:02 Counts）

Identifier to cite or link to this item: https://hdl.handle.net/11094/102697

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Title
Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development
Creator
CreatorName
Hu, Yajie
NRID
1000050450896 1000050450896
ORCID
0000-0003-3021-7078 0000-0003-3021-7078
researchmap permalink
kenji_mizuguchi kenji_mizuguchi
Scopus Author ID
57191477452 57191477452
CreatorName
Mizuguchi, Kenji
NRID
1000040624599 1000040624599
ORCID
0000-0003-3031-0635 0000-0003-3031-0635
researchmap permalink
khx khx
Scopus Author ID
9238154600 9238154600
CreatorName
Hashimoto, Kosuke
Subject
Comparative genomics
D20S16
Embryonic development
Human genome (T2T-CHM13)
RNA-seq
Satellite DNA
Description
Hu Y., Mizuguchi K., Hashimoto K.. Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development. Scientific Reports 15, 26770 (2025); https://doi.org/10.1038/s41598-025-11753-w.
Abstract
Satellite DNA is essential for chromosome stability and gene regulation, yet its specific roles in early human embryogenesis remain poorly defined. Here, we integrated the complete human genome reference (T2T-CHM13) with RNA-seq data to investigate the expression and regulation of the satellite DNA element D20S16 across key stages of human embryonic development. We identified 20 distinct D20S16 tandem repeat clusters, but found that only two, both located on chromosome 20, were actively transcribed during early embryogenesis. Expression of D20S16 was high in early developmental stages, significantly declining thereafter. Comparative analysis revealed minimal expression of D20S16 in macaque embryos, correlating with fewer and shorter repeat units. Beyond embryogenesis, D20S16 also exhibited notably high expression levels in breast cancer and testicular tissues, suggesting additional biological roles. Furthermore, we investigated the evolutionary distribution of D20S16 across primates and other mammals. Our findings highlight the potential regulatory functions of satellite DNA in human development, pointing to the importance of specific chromosomal contexts for transcriptional activation. This study enhances our understanding of satellite DNA’s functional and evolutionary significance, laying the groundwork for future research into its roles in development and disease.
Publisher
Nature Research
Source Title
Scientific Reports
Volume (Issue)
15
Page
26770
Date of Issued
2025-07-23
Language
English
Handle URL
https://hdl.handle.net/11094/102697
eISSN
20452322
Relation.isIdenticalTo
DOI (Publisher Version)
https://doi.org/10.1038/s41598-025-11753-w
Access Rights
open access
CopyRight
This article is licensed under a Creative Commons Attribution 4.0 International License.
oaire:version
Version of Record
Category
学術雑誌論文 Journal Article