Abstract
Sex determination is a complicated process involving large-scale modifications in gene expression affecting virtually every tissue in the body. Although the evolutionary origin of sex remains controversial, there is little doubt that it has developed as a process of optimizing metabolic control, as well as developmental and reproductive functions within a given setting of limited resources and environmental pressure. Evidence from various model organisms supports the view that sex determination may occur as a result of direct environmental induction or genetic regulation. The first process has been well documented in reptiles and fish, while the second is the classic case for avian species and mammals. Both of the latter have developed a variety of sex-specific/sex-related genes, which ultimately form a complete chromosome pair (sex chromosomes/gonosomes). Interestingly, combinations of environmental and genetic mechanisms have been described among different classes of animals, thus rendering the possibility of a unidirectional continuous evolutionary process from the one type of mechanism to the other unlikely. On the other hand, common elements appear throughout the animal kingdom, with regard to a) conserved key genes and b) a central role of sex steroid control as a prerequisite for ultimately normal sex differentiation. Studies in invertebrates also indicate a role of epigenetic chromatin modification, particularly with regard to alternative splicing options. This review summarizes current evidence from research in this hot field and signifies the need for further study of both normal hormonal regulators of sexual phenotype and patterns of environmental disruption.
Highlights
Sex is believed to be a complex regulatory model which involves the fine-tuned action of numerous genes affecting most aspects of an organism’s functional systems
The role and function of every gene in this series is currently not known, the results clearly indicate the expansion of sexual dimorphism far beyond the conventional range of sex determining genes and reproductive organ formation [36]
Sex determination remains an intriguing field of study, with various open questions that pose a challenge for researchers in the field
Summary
Sex is believed to be a complex regulatory model which involves the fine-tuned action of numerous genes affecting most aspects of an organism’s functional systems. The available evidence is not conclusive, this seems to indicate a potential continuity in evolutionary history, in the sense that the rise of a novel key regulatory gene (namely SRY) has been combined with numerous structural and functional adaptations that were pre-existing in a possible common ancestor of birds and mammals to create transient sex determination models, later substituted by the more complex networks involved in modern avian and mammalian sex determination [39] The latter is characterized by a conserved main gene cassette in both eutherian and marsupial species, including ATRX, SRY and SOX9, patterns of expression and regulation have drifted apart in the course of subsequent evolution [40]. The detection of the evolutionary history of this mechanism may allow its categorization as an invertebrate exclusivity [14,78,79]
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