Dipartimento di Biologia Evoluzionistica Sperimentale, Università di Bologna, Bologna, Italy.
Mol Biol Evol. 2012 Feb;29(2):771-86. doi: 10.1093/molbev/msr248. Epub 2011 Oct 5.
Males and females share the same genome, thus, phenotypic divergence requires differential gene expression and sex-specific regulation. Accordingly, the analysis of expression patterns is pivotal to the understanding of sex determination mechanisms. Many bivalves are stable gonochoric species, but the mechanism of gonad sexualization and the genes involved are still unknown. Moreover, during the period of sexual rest, a gonad is not present and sex cannot be determined. A mechanism associated with germ line differentiation in some bivalves, including the Manila clam Ruditapes philippinarum, is the doubly uniparental inheritance (DUI) of mitochondria, a variation of strict maternal inheritance. Two mitochondrial lineages are present, one transmitted through eggs and the other through sperm, as well as a mother-dependent sex bias of the progeny. We produced a de novo annotation of 17,186 transcripts from R. philippinarum and compared the transcriptomes of males and females and identified 1,575 genes with strong sex-specific expression and 166 sex-specific single nucleotide polymorphisms, obtaining preliminary information about genes that could be involved in sex determination. Then we compared the transcriptomes between a family producing predominantly females and a family producing predominantly males to identify candidate genes involved in regulation of sex-specific aspects of DUI system, finding a relationship between sex bias and differential expression of several ubiquitination genes. In mammalian embryos, sperm mitochondria are degraded by ubiquitination. A modification of this mechanism is hypothesized to be responsible for the retention of sperm mitochondria in male embryos of DUI species. Ubiquitination can additionally regulate gene expression, playing a role in sex determination of several animals. These data enable us to develop a model that incorporates both the DUI literature and our new findings.
男性和女性拥有相同的基因组,因此表型的差异需要不同的基因表达和性别特异性调节。因此,分析表达模式对于理解性别决定机制至关重要。许多双壳类动物是稳定的雌雄同体物种,但性腺性化的机制和涉及的基因仍不清楚。此外,在性静止期,性腺不存在,无法确定性别。与一些双壳类动物生殖细胞分化相关的一种机制是线粒体的双重单亲遗传(DUI),这是严格母系遗传的一种变体。存在两种线粒体谱系,一种通过卵子传递,另一种通过精子传递,以及后代的母系依赖性性别偏倚。我们对菲律宾蛤仔 Ruditapes philippinarum 进行了 17186 个转录本的从头注释,并比较了雌雄个体的转录组,鉴定了 1575 个具有强烈性别特异性表达的基因和 166 个性别特异性单核苷酸多态性,获得了可能参与性别决定的基因的初步信息。然后,我们比较了主要产生雌性和主要产生雄性的两个家系的转录组,以鉴定参与 DUI 系统性别特异性方面调控的候选基因,发现性别偏倚与几个泛素化基因的差异表达之间存在关系。在哺乳动物胚胎中,精子线粒体通过泛素化降解。假设这种机制的改变负责保留 DUI 物种雄性胚胎中的精子线粒体。泛素化还可以调节基因表达,在几种动物的性别决定中发挥作用。这些数据使我们能够建立一个模型,该模型结合了 DUI 文献和我们的新发现。