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.