How genetic defects in piRNA trimming contribute to male infertility

被引:12
作者
Mann, Jeffrey M. [1 ]
Wei, Chao [1 ]
Chen, Chen [1 ,2 ,3 ]
机构
[1] Michigan State Univ, Dept Anim Sci, E Lansing, MI 48824 USA
[2] Michigan State Univ, Reprod & Dev Sci Program, E Lansing, MI 48824 USA
[3] Michigan State Univ, Dept Obstet Gynecol & Reprod Biol, Grand Rapids, MI USA
基金
美国国家卫生研究院;
关键词
azoospermia; genetic models; male infertility; piRNA trimming; PIWI; PNLDC1; PIWI-INTERACTING RNA; TUDOR-DOMAIN; PACHYTENE PIRNAS; DNA METHYLATION; NUAGE FORMATION; BIOGENESIS; RETROTRANSPOSON; PROTEIN; MILI; SPERMATOGENESIS;
D O I
10.1111/andr.13324
中图分类号
R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
摘要
In germ cells, small non-coding PIWI-interacting RNAs (piRNAs) work to silence harmful transposons to maintain genomic stability and regulate gene expression to ensure fertility. However, these piRNAs must undergo a series of steps during biogenesis to be properly loaded onto PIWI proteins and reach the correct nucleotide length. This review is focused on what we are learning about a crucial step in this process, piRNA trimming, in which pre-piRNAs are shortened to final lengths of 21-35 nucleotides. Recently, the 3 '-5 ' exonuclease trimmer has been identified in various models as PNLDC1/PARN-1. Mutations of the piRNA trimmers in vivo lead to increased transposon expression, elevated levels of untrimmed pre-piRNAs, decreased piRNA stability, and male infertility. Here, we will discuss the role of piRNA trimmers in piRNA biogenesis and function, describe consequences of piRNA trimmer mutations using mammalian models and human patients, and examine future avenues of piRNA trimming-related study for clinical advancements for male infertility.
引用
收藏
页码:911 / 917
页数:7
相关论文
共 107 条
[71]   Piwi Proteins and piRNAs in Mammalian Oocytes and Early Embryos [J].
Roovers, Elke F. ;
Rosenkranz, David ;
Mahdipour, Mahdi ;
Han, Chung-Ting ;
He, Nannan ;
Lopes, Susana M. Chuva de Sousa ;
van der Westerlaken, Lucette A. J. ;
Zischler, Hans ;
Butter, Falk ;
Roelen, Bernard A. J. ;
Ketting, Rene F. .
CELL REPORTS, 2015, 10 (12) :2069-2082
[72]   Specific association of Piwi with rasiRNAs derived from retrotransposon and heterochromatic regions in the Drosophila genome [J].
Saito, Kuniaki ;
Nishida, Kazumichi M. ;
Mori, Tomoko ;
Kawamura, Yoshinori ;
Miyoshi, Keita ;
Nagami, Tomoko ;
Siomi, Haruhiko ;
Siomi, Mikiko C. .
GENES & DEVELOPMENT, 2006, 20 (16) :2214-2222
[73]   Tdrkh is essential for spermatogenesis and participates in primary piRNA biogenesis in the germline [J].
Saxe, Jonathan P. ;
Chen, Mengjie ;
Zhao, Hongyu ;
Lin, Haifan .
EMBO JOURNAL, 2013, 32 (13) :1869-1885
[74]   TEX15 is an essential executor of MIWI2-directed transposon DNA methylation and silencing [J].
Schopp, Theresa ;
Zoch, Ansgar ;
Berrens, Rebecca, V ;
Auchynnikava, Tania ;
Kabayama, Yuka ;
Vasiliauskaite, Lina ;
Rappsilber, Juri ;
Allshire, Robin C. ;
O'Carroll, Donal .
NATURE COMMUNICATIONS, 2020, 11 (01)
[75]  
Sha YW, 2022, NEW ENGL J MED, V386, P1675, DOI 10.1056/NEJMc2116008
[76]   GPAT2 is required for piRNA biogenesis, transposon silencing, and maintenance of spermatogonia in mice [J].
Shiromoto, Yusuke ;
Kuramochi-Miyagawa, Satomi ;
Nagamori, Ippei ;
Chuma, Shinichiro ;
Arakawa, Tatsuhiko ;
Nishimura, Toru ;
Hasuwa, Hidetoshi ;
Tachibana, Taro ;
Ikawa, Masahito ;
Nakano, Toru .
BIOLOGY OF REPRODUCTION, 2019, 101 (01) :248-256
[77]   The TDRD9-MIWI2 Complex Is Essential for piRNA-Mediated Retrotransposon Silencing in the Mouse Male Germline [J].
Shoji, Masanobu ;
Tanaka, Takashi ;
Hosokawa, Mihoko ;
Reuter, Michael ;
Stark, Alexander ;
Kato, Yuzuru ;
Kondoh, Gen ;
Okawa, Katsuya ;
Chujo, Takeshi ;
Suzuki, Tsutomu ;
Hata, Kenichiro ;
Martin, Sandra L. ;
Noce, Toshiaki ;
Kuramochi-Miyagawa, Satomi ;
Nakano, Toru ;
Sasaki, Hiroyuki ;
Pillai, Ramesh S. ;
Nakatsuji, Norio ;
Chuma, Shinichiro .
DEVELOPMENTAL CELL, 2009, 17 (06) :775-787
[78]   PIWI-interacting small RNAs: the vanguard of genome defence [J].
Siomi, Mikiko C. ;
Sato, Kaoru ;
Pezic, Dubravka ;
Aravin, Alexei A. .
NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2011, 12 (04) :246-258
[79]   Mouse maelstrom, a component of nuage, is essential for spermatogenesis and transposon repression in meiosis [J].
Soper, Sarah F. C. ;
van der Heijden, Godfried W. ;
Hardiman, Tara C. ;
Goodheart, Mary ;
Martin, Sandra L. ;
de Boer, Peter ;
Bortvin, Alex .
DEVELOPMENTAL CELL, 2008, 15 (02) :285-297
[80]   Article Hierarchical length and sequence preferences establish a single major piRNA 3′-end [J].
Stoyko, Daniel ;
Genzor, Pavol ;
Haase, Astrid D. .
ISCIENCE, 2022, 25 (06)