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

Hu, Yajie; Mizuguchi, Kenji; Hashimoto, Kosuke

doi:https://doi.org/10.1038/s41598-025-11753-w

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

Hu, Yajie; Mizuguchi, Kenji; Hashimoto, Kosuke

Scientific Reports, 2025, 15, 26770

アクセス数:46件（2025-11-04 00:09 集計）

固定URL: https://hdl.handle.net/11094/102697

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タイトル	Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development
著者	著者名 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 著者名 Mizuguchi, Kenji
	NRID 1000040624599 1000040624599 ORCID 0000-0003-3031-0635 0000-0003-3031-0635 researchmap permalink khx khx Scopus Author ID 9238154600 9238154600 著者名 Hashimoto, Kosuke
キーワード等	Comparative genomics
	D20S16
	Embryonic development
	Human genome (T2T-CHM13)
	RNA-seq
	Satellite DNA
内容	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.
抄録	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.
出版者	Nature Research
収録物名	Scientific Reports
巻(号)	15
ページ	26770
刊行年月	2025-07-23
言語	英語
ハンドルURL	https://hdl.handle.net/11094/102697
eISSN	20452322
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1038/s41598-025-11753-w
アクセス権	open access
権利情報	This article is licensed under a Creative Commons Attribution 4.0 International License.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Scientific Reports. 2025, 15, p. 26770
DC.title	Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development
DC.creator	Hu, Yajie
	Mizuguchi, Kenji
	Hashimoto, Kosuke
DC.publisher	Nature Research
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2025-07-23
DC.identifier	https://doi.org/10.1038/s41598-025-11753-w
DC.subject	Comparative genomics
	D20S16
	Embryonic development
	Human genome (T2T-CHM13)
	RNA-seq
	Satellite DNA
DC.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.
DCTERMS.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.
DC.rights	This article is licensed under a Creative Commons Attribution 4.0 International License.
DC.format	102697
citation_title	Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development
citation_author	Hu, Yajie
	Mizuguchi, Kenji
	Hashimoto, Kosuke
citation_publisher	Nature Research
citation_language	英語
citation_date	2025-07-23
citation_journal_title	Scientific Reports
citation_volume	15
citation_firstpage	26770
citation_doi	https://doi.org/10.1038/s41598-025-11753-w
citation_public_url	https://hdl.handle.net/11094/102697

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

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