Novel mutants of theauberginegene

Abstract

Aubergine is an RNA-binding protein of the Piwi clade, functioning in germline in the piRNA pathway that silences transposons and repetitive sequences. Several mutations of this gene exist, but they mostly result in truncated proteins or correspond to mutations that also affect neighboring genes. We have generated complete aubergine knock-out mutants that do not disrupt the neighboring genes. These novel mutants are characterized by PCR and sequencing. Their nature is confirmed by female sterility and by the presence of crystals in testes, common to the aubergine loss of function mutations. These mutants provide novel and more appropriate tools for the study of the piRNA pathway that controls genome stability.

Drosophila melanogaster as a Model to Study the Multiple Phenotypes, Related to Genome Stability of the Fragile-X Syndrome

“…The majority of the crystal-Stellate modifiers has a role in the silencing of germinal and somatic transposons and participates in the primary as well as in the ping-pong pathway. Interestingly, mutants for these genes affect fertility, at various degrees, both in females and males (Pane et al., 2007; Specchia et al., 2008, 2017; Specchia and Bozzetti, 2009; Bozzetti et al., 2012; Sahin et al., 2016).…”

The RNA Helicase BELLE Is Involved in Circadian Rhythmicity and in Transposons Regulation in Drosophila melanogaster

“…In order to better elucidate this involvement, we decided to investigate belle function in the gonads, where the role of the different components of the piRNA pathway is almost entirely known (Vagin et al, 2006; Brennecke et al, 2007; Klattenhoff and Theurkauf, 2008; Li et al, 2009; Malone et al, 2009; Khurana and Theurkauf, 2010; Senti and Brennecke, 2010; Czech et al, 2013; Handler et al, 2013; Muerdter et al, 2013; Iwasaki et al, 2015). Our group has identified some key components of the piRNA pathway, like aubergine, hsp83, dFmr1 (Specchia et al, 2008, 2010, 2017; Specchia and Bozzetti, 2009; Bozzetti et al, 2015) and demonstrated that TEs and repetitive sequences like Stellate are transcriptionally activated as a consequence of mutations in these piRNA genes (Aravin et al, 2001, 2003; Nishida et al, 2007; Specchia and Bozzetti, 2009; Bozzetti et al, 2012, 2015; Malone et al, 2015; Sahin et al, 2016).…”

“…They also co-localize at the “nuage” of the germline where, Argonaute, Tudor and many other factors are also located for an efficient TE silencing (Lasko and Ashburner, 1990; Lim and Kai, 2007; Lasko, 2013; Bozzetti et al, 2015). However, in contrast to the majority of piRNA-related genes (Nishida et al, 2007; Specchia et al, 2008, 2010, 2017; Specchia and Bozzetti, 2009; Bozzetti et al, 2015; Sahin et al, 2016), belle seems not to be involved in the crystal-Stellate regulatory pathway, since mutant flies did not exhibited Stellate-made crystalline aggregates in the spermatocytes (Supplementary Information and Supplementary Figure S6). This observation well-agrees with the demonstration that belle EY 08943 mutant does not show an increase of RNA for TEs and repetitive sequences like Stellate.…”

“…The piRNA biogenesis starts with the transcription of genomic clusters dispersed in the genome, producing the primary piRNA precursor transcripts (Brennecke et al, 2007). The piRNA pathway was first discovered in the gonads (Vagin et al, 2006; Aravin et al, 2007; Brennecke et al, 2007; Specchia et al, 2008, 2010, 2017; Specchia and Bozzetti, 2009; Bozzetti et al, 2015; Iwasaki et al, 2015; Sahin et al, 2016), but later it was observed in the nervous system of both Drosophila and mice (Lee et al, 2011; Perrat et al, 2013).…”

dFmr1 Plays Roles in Small RNA Pathways of Drosophila melanogaster

“…Many proteins involved in piRNAs biogenesis and transposon silencing, such as Aubergine, Ago3, Vasa, Krimper, Tudor, Spindle-E, Tejas, and Kumo/Qin are localized in the nuage [ 51 , 61 , 83 , 84 , 85 , 86 , 87 , 88 ]. Although for some of these proteins the molecular mechanism of the piRNA pathway is not completely clarified, the complex framework of interactions and actions continues to be enriched with new discoveries.…”