Evolutionarily conserved pachytene piRNA loci are highly divergent among modern humans

UMMS Affiliation

RNA Therapeutics Institute; Program in Bioinformatics and Integrative Biology; Graduate School of Biomedical Sciences

Publication Date


Document Type



Biochemistry, Biophysics, and Structural Biology | Bioinformatics | Computational Biology | Developmental Biology | Ecology and Evolutionary Biology | Integrative Biology | Systems Biology


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.

DOI of Published Version



Nat Ecol Evol. 2020 Jan;4(1):156-168. doi: 10.1038/s41559-019-1065-1. Epub 2019 Dec 23. Link to article on publisher's site

Journal/Book/Conference Title

Nature ecology and evolution

Related Resources

Link to Article in PubMed

PubMed ID