Evolutionarily conserved pachytene piRNA loci are highly divergent among modern humans
Open Access
- 23 December 2019
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Ecology & Evolution
- Vol. 4 (1), 156-168
- https://doi.org/10.1038/s41559-019-1065-1
Abstract
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.Keywords
Funding Information
- U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD078253, P01HD078253)
- U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (R37GM062862)
- Howard Hughes Medical Institute
This publication has 61 references indexed in Scilit:
- STAR: ultrafast universal RNA-seq alignerBioinformatics, 2012
- Mili and Miwi target RNA repertoire reveals piRNA biogenesis and function of Miwi in spermiogenesisNature Structural & Molecular Biology, 2012
- Fast gapped-read alignment with Bowtie 2Nature Methods, 2012
- The Drosophila HP1 Homolog Rhino Is Required for Transposon Silencing and piRNA Production by Dual-Strand ClustersCell, 2009
- The Sequence Alignment/Map format and SAMtoolsBioinformatics, 2009
- A piRNA Pathway Primed by Individual Transposons Is Linked to De Novo DNA Methylation in MiceMolecular Cell, 2008
- DNA methylation of retrotransposon genes is regulated by Piwi family members MILI and MIWI2 in murine fetal testesGenes & Development, 2008
- Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in EuropeansNature Genetics, 2007
- A novel class of small RNAs in mouse spermatogenic cellsGenes & Development, 2006
- A germline-specific class of small RNAs binds mammalian Piwi proteinsNature, 2006