There was a bit of coverage last week in the scientific and popular press about some research that appears to refute the idea that the human Y chromosome could disappear at some point in our evolutionary future. In early mammals, the Y chromosome was the same size as the X chromosome but, during the course of our evolution has shrunk to a fraction of the size. This has led to the theory that the Y chromosome could disappear altogether if this shrinking carries on, but the new study has challenged this notion by showing that Y has, in fact, remained a fairly stable size over the last 25 million years. It seems that we may be arriving, or have arrived, at the bare essentials – the non-critical genes have been stripped away over time and natural selection has preserved the vital ones.
The jury’s still out on whether the Y chromosome will become extinct – “we won’t nail it without a crystal ball”, said Professor Darren Griffin of University of Kent in a Guardian article – but this sparked a memory of a conversation I had a while ago about what it is to be ‘male’ or ‘female’.
Some of wife’s friends had been debating whether or not all babies “start off as females”. This debate arose, I guessed while desperately trying to recall my high school biology classes, because of the fact that all fertilised embryos develop along the same path, regardless of the genetic make-up of the embryo. This is until certain genes on the Y chromosome (if present) are activated at around eight weeks and male-associated hormones, chiefly testosterone, are produced that act on some cells to start forming male-specific organs. Without these hormones kicking in, which is the case in XX embryos when no Y chromosome in present, the cells in the developing embryo go on to form female-specific organs. This means that fertilised embryos under normal circumstances will develop female-specific sex organs unless a hormone cue is activated that signals otherwise.
So all embryos are female, then?
Hmm, perhaps not. One can still make a genetic distinction between males and females at the very point of fertilisation – XX chromosomes will give rise to females and XY will lead to males – and this remains static throughout an individual’s development (and, indeed, life). There are, however, some clinical oddities that throws some confusion into the mix. Some males, for instance, have two X chromosomes but develop as males instead of females because of the presence of a third, Y chromosome that contains the genes to provide the male hormone cues (“Klinefelter’s syndrome“).
So could we define maleness as the presence of at least one Y chromosome (some males are XYY too)?
Not really, because that definition comes unstuck when we consider individuals who are XX but develop as males (at least outwardly), due to the gene for the male hormone cue being copied to one of the X chromosomes (“XX male syndrome“), or individuals who are XY but develop as females, due to a defective Y chromosome (“Turner syndrome“) or mutated Y genes (“Swyer syndrome“).
This leads to complications when trying to enforce a purely genetic definition of gender. The International Olympics Committee for years attempted to enforce this view to adjudicate on cases of gender uncertainty, believing that this represented a more definitive and less intrusive test than physical examination. In this Y-centric definition, without ever meeting an individual and having only a few of their cells, the presence of the Y chromosome or any of its genes (such as the male sex determining gene called ‘Sex-determining Region Y’ (SRY)) would lead to the conclusion that those cells came from a man.
However, for the reasons I mentioned above about all the genetic uncertainties, pressure from a number of medical associations in the USA thankfully led to this sort of test being dropped by 2000. A ‘one-or-the-other’ test of this sort simply does not fully account for the complexities of gender and can lead to discrimination and unfair impediment. The lead opponent of such gender screening, Georg Facius, even proposed a ‘third gender’ for those that could be considered both male and female. One instance where this could be applicable is in cases of “Androgen insensitivity syndrome“, in which XY individuals show abnormal responses to the masculinising hormone androgen. Because the effects can vary, some individuals are anatomically male but have reduced fertility (mild), some possess ambiguous genitalia (partial), while some are almost indistinguishable from XX females (complete).
Even going back to the possible demise of the Y chromosome casts doubt on this Y-centric world. The experts that do anticipate the disappearance of Y are not predicting the end of ‘males’, rather they envisage another sex determining mechanism will take over. This happened before the emergence of the Y chromosome (sex was determined by environmental factors, such as temperature, and still is in some reptiles) and occurs in mammals where the Y chromosome has disappeared (in spiny rats, for example, the male-specific genes have hitched onto other chromosomes).
And this is all before we get into the complex world of gender identity, such as when an individual of one gender is uncomfortable being associated with that gender, which may be environment-driven (or may not be, or may be a little bit). Nor have I touched on psychological and behavioural differences, which lie on a continuous and overlapping spectrum between males and females and are often socially defined (and therefore subject to variation and change).
So none of this means that an embryo is female before the male signals kick in. It is perhaps more accurate to say that an embryo is gender-neutral, i.e. neither male nor female, until towards the end of the embryonic period, at which point anatomical differences start to become apparent in the foetus. But even then, as highlighted above, someone may share characteristics of both sexes and remain ‘double gender’.
Which is all a long-winded of way of saying that a binary male-female distinction is a little fuzzy.