Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development
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 satel...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-07-01
|
| Series: | Scientific Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1038/s41598-025-11753-w |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849343319354638336 |
|---|---|
| author | Yajie Hu Kenji Mizuguchi Kosuke Hashimoto |
| author_facet | Yajie Hu Kenji Mizuguchi Kosuke Hashimoto |
| author_sort | Yajie Hu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-57f46072f09b490695bbcc0073acd5c1 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-57f46072f09b490695bbcc0073acd5c12025-08-20T03:43:02ZengNature PortfolioScientific Reports2045-23222025-07-0115111410.1038/s41598-025-11753-wUnveiling unique expression patterns of D20S16 satellite DNA in human embryonic developmentYajie Hu0Kenji Mizuguchi1Kosuke Hashimoto2Institute for Protein Research, Osaka UniversityInstitute for Protein Research, Osaka UniversityInstitute for Protein Research, Osaka UniversityAbstract 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.https://doi.org/10.1038/s41598-025-11753-wSatellite DNAD20S16Embryonic developmentRNA-seqComparative genomicsHuman genome (T2T-CHM13) |
| spellingShingle | Yajie Hu Kenji Mizuguchi Kosuke Hashimoto Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development Scientific Reports Satellite DNA D20S16 Embryonic development RNA-seq Comparative genomics Human genome (T2T-CHM13) |
| title | Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development |
| title_full | Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development |
| title_fullStr | Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development |
| title_full_unstemmed | Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development |
| title_short | Unveiling unique expression patterns of D20S16 satellite DNA in human embryonic development |
| title_sort | unveiling unique expression patterns of d20s16 satellite dna in human embryonic development |
| topic | Satellite DNA D20S16 Embryonic development RNA-seq Comparative genomics Human genome (T2T-CHM13) |
| url | https://doi.org/10.1038/s41598-025-11753-w |
| work_keys_str_mv | AT yajiehu unveilinguniqueexpressionpatternsofd20s16satellitednainhumanembryonicdevelopment AT kenjimizuguchi unveilinguniqueexpressionpatternsofd20s16satellitednainhumanembryonicdevelopment AT kosukehashimoto unveilinguniqueexpressionpatternsofd20s16satellitednainhumanembryonicdevelopment |