Genomic characterization and evolutionary path of human satellite 1B in primates highlight a dynamic relationship with transposable elements

HSat1B’s GC-rich H1B unit predates the composite monomer by at least 60 million years and is found across 10 primate genomes, including lemur.

• Why it matters: Classical HSat1B is abundant on the human Y chromosome but poorly characterized, and its evolutionary origin and relationship to transposable elements remain unclear.
• What they did: Using Telomere-to-Telomere and chromosome-scale long-read assemblies across 10 primate species plus DNA-FISH, RNA-FISH, and long-read transcriptomics, the study mapped H1B, H1Bsv1, and H1Bsv2 and assessed TE-rich contexts.
• The result: Canonical tandem HSat1B arrays are restricted to Homininae, while humans show Yq12 amplification of ~14.2 Mb (92% of total genomic content) and H1B/Alu chimeric transcripts are detected in the human male germline.

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