Abstract
Transposable elements (TEs), can insert themselves independently into genomes and alter the genome structure and consequently the function of genes. The repression of TE expression and transposition is of primary importance especially to germ line cells since they are the only cells that will pass the genetic information onto the next generation. In animals, including mammals, the evolutionary conserved subclass of the Argonaute proteins, the P-element induced wimpy testis proteins (PIWI), play a central role in the silencing of TEs during gametogenesis. PIWI proteins bind a class of small non-coding RNAs, called piRNAs (24–32 nucleotides long), to form the piRNA-inducing silencing complex (piRISC). piRISC represses TE transcription via epigenetic modifications, and TE mobilization via PIWI-catalyzed degradation of TE-RNA. PIWI proteins are also involved in the biogenesis of piRNAs from precursor RNA molecules that originate in conserved DNA regions (clusters) containing non-coding sequences or TE repeat sequences. The piRISC-mediated TE repression and piRNA biogenesis are modulated through associations with cytoplasmic proteins that act as scaffolds for piRISC localization, mobilization and activity. The precise mechanism and the full repertoire of proteins involved in the piRNA-PIWI pathway are currently under investigation. Experimental animal models from diverse phyla and species indicate that this pathway has been conserved in metazoan, through evolution. It has evolved through Piwi gene duplications and piRNA cluster expansions to defend in a cell and tissue-specific context, the integrity of the genome during germ line development. Recent evidence indicates that the biological functions of the piRNA-PIWI system may extend beyond transposon control and be involved in the regulation of the expression of protein-coding genes that determine male germ cell specification, self-renewal and maturation. Dysfunctions of the piRNA-PIWI pathway causing TE accumulation may result in fertility defects; similarly irregularities in PIWI function may underlie causes for cancer development in mammals.
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Demoliou, C. (2015). piRNAs-Transposon Silencing and Germ Line Development. In: Felekkis, K., Voskarides, K. (eds) Genomic Elements in Health, Disease and Evolution. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-3070-8_3
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