12/24/2023 0 Comments Splice 2009 nude![]() Similarly, doublesex ( dsx) and transformer ( tra), two members of the core pathway of sex determination, also encode male- or female-specific isoforms ( Christiansen et al. Proper splicing of Sxl is necessary to orchestrate the expression of genes that control sex-specific development and behavior ( Salz and Erickson 2010). 1988 Salz and Erickson 2010) Sxl encodes 21 protein isoforms, with all male-specific isoforms containing a translation-terminating exon. In Drosophila, the mechanism of sex determination hinges on the post-transcriptional regulation of the sex-lethal ( Sxl) gene ( Bell et al. Accordingly, studies focusing on Drosophila and primates have described AS events that are differentially regulated between the sexes in both somatic and gonadal tissues ( McIntyre et al. Sex-biased alternative splicing (AS) can contribute to sex-specific adaptation ( Parsch and Ellegren 2013). The mechanism through which Y-linked repeats modulate gene expression have been a matter of recent discussion ( Francisco and Lemos 2014). These repetitive elements are variable within populations ( Lyckegaard and Clark 1989) and affect gene expression diversity in males ( Lemos et al. Despite the lack of diversity in coding regions (CDS), the 40-Mb chromosome is loaded with low-complexity DNA arrays ( e.g., microsatellites) and transposable elements ( Dimitri and Pisano 1989 Carvalho 2002 Piergentili 2010 Bachtrog 2013). In contrast to the X chromosome, the Y chromosome carries a handful of protein-coding genes, which are mostly monomorphic within populations ( Zurovcova and Eanes 1999). 2002) and harbors disproportionate, nonadditive variation for gene expression diversity in females ( Wayne et al. For instance, the X chromosome is a hotspot for sexually antagonistic variation in Drosophila ( Gibson et al. In Drosophila, the X chromosome is relatively large with thousands of protein-coding genes, with experimental evidence confirming population genetic predictions about the consequences of X-linked variation. 2014) and are often traced to variation in the sex chromosomes ( Gibson et al. 2012 Parsch and Ellegren 2013 Perry et al. 2003 Ellegren and Parsch 2007 Zhang et al. While sex differences in gene expression are observed in several tissues, they are especially manifested in the gonads ( Meiklejohn et al. These sex-specific and sex-biased phenotypes partially emerge from regulatory differences in gene expression. MALES and females share an identical set of autosomes, yet display extensive phenotypic variation in behavior, morphology, and physiology. Modulation of splicing and IR rates across the genome represent new and unexpected outcomes of the Drosophila Y chromosome. ![]() Our results highlight the significance of sex-biased IR in tuning sex differences and the role of the Y chromosome as a source of variable IR rates between the sexes. Surprisingly, an extra Y chromosome in males ( X^YY genotype) or the presence of a Y chromosome in females ( X^XY genotype) significantly modulated IR and recapitulated natural differences in IR between the sexes. ![]() The majority of sex-biased IR events introduced premature termination codons and the magnitude of sex bias was associated with gene expression differences between the sexes. The data also revealed an unsuspected role for the Y chromosome in the modulation of AS and IR. Here we showed pervasive IR in the fruit fly Drosophila melanogaster with thousands of novel IR events, hundreds of which displayed extensive sex bias. However, the extent of sex differences in IR and the contribution of the Y chromosome to the modulation of AS and IR rates has not been addressed. IR recently emerged as a deliberate cellular mechanism to modulate gene expression levels and has been implicated in multiple biological processes. ![]() Intron retention (IR) is a type of alternative splicing (AS) event by which one or more introns remain within the mature transcript. The Drosophila Y chromosome is a 40-Mb segment of mostly repetitive DNA it harbors a handful of protein-coding genes and a disproportionate amount of satellite repeats, transposable elements, and multicopy DNA arrays. ![]()
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