Evolutionarily conserved pachytene piRNA loci are highly divergent among modern humans

Deniz M. Özata, Tianxiong Yu, Haiwei Mou, Ildar Gainetdinov, Cansu Colpan, Katharine Cecchini, Yasin Kaymaz, Pei Hsuan Wu, Kaili Fan, Alper Kucukural, Zhiping Weng, Phillip D. Zamore

Research output: Contribution to journalArticlepeer-review


In the fetal mouse testis, PIWI-interacting RNAs (piRNAs) guide PIWI proteins to silence transposons but, after birth, most post-pubertal pachytene piRNAs map to the genome uniquely and are thought to regulate genes required for male fertility. In the human male, the developmental classes, precise genomic origins and transcriptional regulation of postnatal piRNAs remain undefined. Here, we demarcate the genes and transcripts that produce postnatal piRNAs in human juvenile and adult testes. As in the mouse, human A-MYB drives transcription of both pachytene piRNA precursor transcripts and messenger RNAs encoding piRNA biogenesis factors. Although human piRNA genes are syntenic to those in other placental mammals, their sequences are poorly conserved. In fact, pachytene piRNA loci are rapidly diverging even among modern humans. Our findings suggest that, during mammalian evolution, pachytene piRNA genes are under few selective constraints. We speculate that pachytene piRNA diversity may provide a hitherto unrecognized driver of reproductive isolation.

Original languageEnglish (US)
Pages (from-to)156-168
Number of pages13
JournalNature Ecology and Evolution
Issue number1
StatePublished - Jan 1 2020

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Ecology


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