1. Reduced pachytene piRNAs and translation underlie spermiogenic arrest in Maelstrom mutant mice
- Author
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Castañeda, Julio, Genzor, Pavol, van der Heijden, Godfried W, Sarkeshik, Ali, Yates, John R, Ingolia, Nicholas T, and Bortvin, Alex
- Subjects
Biochemistry and Cell Biology ,Biomedical and Clinical Sciences ,Biological Sciences ,Genetics ,1.1 Normal biological development and functioning ,Underpinning research ,Animals ,DNA-Binding Proteins ,Gene Expression Regulation ,Male ,Mice ,Mice ,Knockout ,Mutation ,Pachytene Stage ,Protein Biosynthesis ,RNA ,Small Interfering ,Spermatids ,Spermatogenesis ,Testis ,Transcription Factors ,germ cell ,maelstrom ,mouse ,piRNA ,Piwi ,Information and Computing Sciences ,Medical and Health Sciences ,Developmental Biology ,Biological sciences ,Biomedical and clinical sciences - Abstract
Pachytene piRNAs are a class of Piwi-interacting small RNAs abundant in spermatids of the adult mouse testis. They are processed from piRNA primary transcripts by a poorly understood mechanism and, unlike fetal transposon-derived piRNAs, lack complementary targets in the spermatid transcriptome. We report that immunopurified complexes of a conserved piRNA pathway protein Maelstrom (MAEL) are enriched in MIWI (Piwi partner of pachytene piRNAs), Tudor-domain proteins and processing intermediates of pachytene piRNA primary transcripts. We provide evidence of functional significance of these complexes in Mael129 knockout mice that exhibit spermiogenic arrest with acrosome and flagellum malformation. Mael129-null mutant testes possess low levels of piRNAs derived from MAEL-associated piRNA precursors and exhibit reduced translation of numerous spermiogenic mRNAs including those encoding acrosome and flagellum proteins. These translation defects in haploid round spermatids are likely indirect, as neither MAEL nor piRNA precursors associate with polyribosomes, and they may arise from an imbalance between pachytene piRNAs and MIWI.
- Published
- 2014