Center for Animal Transgenesis and Germ Cell Research and Department of Animal Biology, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA 19104, USA.
Proc Natl Acad Sci U S A. 2010 Jun 29;107(26):11841-6. doi: 10.1073/pnas.1003953107. Epub 2010 Jun 1.
Piwi-interacting RNAs (piRNAs) are essential for silencing of transposable elements in the germline, but their biogenesis is poorly understood. Here we demonstrate that MOV10L1, a germ cell-specific putative RNA helicase, is associated with Piwi proteins. Genetic disruption of the MOV10L1 RNA helicase domain in mice renders both MILI and MIWI2 devoid of piRNAs. Absence of a functional piRNA pathway in Mov10l1 mutant testes causes loss of DNA methylation and subsequent derepression of retrotransposons in germ cells. The Mov10l1 mutant males are sterile owing to complete meiotic arrest. This mouse mutant expresses Piwi proteins but lacks piRNAs, suggesting that MOV10L1 is required for piRNA biogenesis and/or loading to Piwi proteins.
Piwi 相互作用 RNA（piRNAs）对于生殖细胞中转座元件的沉默至关重要，但它们的生物发生过程知之甚少。在这里，我们证明了 MOV10L1，一种生殖细胞特异性的假定 RNA 解旋酶，与 Piwi 蛋白相关。在小鼠中破坏 MOV10L1 RNA 解旋酶结构域，会使 MILI 和 MIWI2 失去 piRNAs。在 Mov10l1 突变体睾丸中，功能丧失的 piRNA 途径导致 DNA 甲基化丢失，随后逆转录转座子在生殖细胞中去抑制。由于完全减数分裂阻滞，Mov10l1 突变体雄性不育。这种小鼠突变体表达 Piwi 蛋白，但缺乏 piRNAs，这表明 MOV10L1 是 piRNA 生物发生和/或加载到 Piwi 蛋白所必需的。
