How Australian mammals contributed to our understanding of sex determination and sex chromosomes

Abstract

Marsupials and monotremes can be thought of as independent experiments in mammalian evolution. The discovery of the human male-determining gene, SRY, how it works, how it evolved and defined our sex chromosomes, well illustrates the value of comparing distantly related animals and the folly of relying on humans and mice for an understanding of the most fundamental aspects of mammalian biology. The 25th anniversary of the discovery of SRY seems a good time to review the contributions of Australian mammals to these discoveries. The discovery of the mammalian sex determining gene, SRY, was a milestone in the history of human genetics. SRY opened up investigations into the pathway by which the genital ridge (bipotential gonad) becomes a testis. Studies of Australian mammals were important in the story of the discovery of SRY, not only in refuting the qualifications of the first candidate sex-determining gene, but also in confirming the ubiquity of SRY and raising questions as to how it works. Studies in marsupials also led to understanding of how SRY evolved from a gene on an autosome with functions in the brain and germ cells, and to identifying the ancestors of other genes on the human Y. The discovery that platypus have sex chromosomes homologous, not to the human XY, but to the bird ZW, dated the origin of the therian SRY and the XY chromosomes it defined. This led to important new models of how our sex chromosomes function, how they evolved, and what might befall this gene and the Y chromosome it defines.