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- Title
Amniotes co-opt intrinsic genetic instability to protect germ-line genome integrity.
- Authors
Sun, Yu H.; Cui, Hongxiao; Song, Chi; Shen, Jiafei Teng; Zhuo, Xiaoyu; Wang, Ruoqiao Huiyi; Yu, Xiaohui; Ndamba, Rudo; Mu, Qian; Gu, Hanwen; Wang, Duolin; Murthy, Gayathri Guru; Li, Pidong; Liang, Fan; Liu, Lei; Tao, Qing; Wang, Ying; Orlowski, Sara; Xu, Qi; Zhou, Huaijun
- Abstract
Unlike PIWI-interacting RNA (piRNA) in other species that mostly target transposable elements (TEs), >80% of piRNAs in adult mammalian testes lack obvious targets. However, mammalian piRNA sequences and piRNA-producing loci evolve more rapidly than the rest of the genome for unknown reasons. Here, through comparative studies of chickens, ducks, mice, and humans, as well as long-read nanopore sequencing on diverse chicken breeds, we find that piRNA loci across amniotes experience: (1) a high local mutation rate of structural variations (SVs, mutations ≥ 50 bp in size); (2) positive selection to suppress young and actively mobilizing TEs commencing at the pachytene stage of meiosis during germ cell development; and (3) negative selection to purge deleterious SV hotspots. Our results indicate that genetic instability at pachytene piRNA loci, while producing certain pathogenic SVs, also protects genome integrity against TE mobilization by driving the formation of rapid-evolving piRNA sequences. Pachytene Piwi-interacting RNAs (piRNAs) expressed in mammalian germ lines are abundant, but their evolution and function are not fully understood. Here, the authors find that pachytene piRNA loci are hotspots of structural variation, which underlies rapid piRNA birth, divergence, and loss.
- Subjects
CHICKEN breeds; AMNIOTES; POULTRY breeding; GERM cells; LOCUS (Genetics); MEIOSIS; TESTIS; GENOMES
- Publication
Nature Communications, 2023, Issue 1, p1
- ISSN
2041-1723
- Publication type
Article
- DOI
10.1038/s41467-023-36354-x