Endogenous retroviruses drive species-specific germline transcriptomes in mammals

Akihiko Sakashita, So Maezawa, Kazuki Takahashi, Kris G. Alavattam, Masashi Yukawa, Yueh Chiang Hu, Shohei Kojima, Nicholas F. Parrish, Artem Barski, Mihaela Pavlicev, Satoshi H. Namekawa

Research output: Contribution to journalArticlepeer-review

34 Citations (Scopus)


Gene regulation in the germline ensures the production of high-quality gametes, long-term maintenance of the species and speciation. Male germline transcriptomes undergo dynamic changes after the mitosis-to-meiosis transition and have been subject to evolutionary divergence among mammals. However, the mechanisms underlying germline regulatory divergence remain undetermined. Here, we show that endogenous retroviruses (ERVs) influence species-specific germline transcriptomes. After the mitosis-to-meiosis transition in male mice, specific ERVs function as active enhancers to drive germline genes, including a mouse-specific gene set, and bear binding motifs for critical regulators of spermatogenesis, such as A-MYB. This raises the possibility that a genome-wide transposition of ERVs rewired germline gene expression in a species-specific manner. Of note, independently evolved ERVs are associated with the expression of human-specific germline genes, demonstrating the prevalence of ERV-driven mechanisms in mammals. Together, we propose that ERVs fine-tune species-specific transcriptomes in the mammalian germline.

Original languageEnglish
Pages (from-to)967-977
Number of pages11
JournalNature Structural and Molecular Biology
Issue number10
Publication statusPublished - 2020 Oct 1

ASJC Scopus subject areas

  • Structural Biology
  • Molecular Biology


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