There are a number of experiments that nature has carried out, in man and other animals, that have helped us considerably in achieving the present understanding of sex determination and differentiation. Some of the key experiments are concerned with: (1) The origin of the germ cells from the wall of the extraembryonic gut, to an understanding of which the W mutants in the mouse have contributed well. (2) The maintenance of the germ cells which in mammals demands not only the ‘right’ gonadal ambient but also its correct chromosomal make-up and correspondence with that of the germ cells (see below). (3) The key role of the Y chromosome in sex determination (namely gonad formation). This was established from the discovery of the sex chromosome anomalies in man (and the mouse), the XO (45, X) and XXY (47,XXY) complements. Other ‘experiments’, in man, with chromosome deletions, would suggest that the sex-determining factor(s) of the Y is on the short arm of this chromosome, now known to be that which associates at meiosis with the X chromosome. Studies, in embryos of the very frequent and very lethal 45,X condition, have uncovered the fact that an ovary develops with a single X chromosome (i.e. does not need the second X) which thus is not a sex determining chromosome, as far as we know, but that its ‘inert variant’ (the X-chromatin, or Barr-body, forming X) is essential for ovarian upkeep and function and thus for continued oögenesis. Yet other experiments (the XX male in man, the goat and the mouse, and the XO male mouse) suggest that ‘switch’ genes for testicular development may exist on the autosomes and be capable of working without a Y, i.e. they may take over its function in unison with two Xs, or (not surprisingly) better still with a single X. But this arrangement is not fully satisfactory as far as the production of competent mature germ cells is concerned.
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