The Gender Genital Gene Genie
By Sophia Siedlberg
Revised 4th., February, 2005
Bio-informatics is a branch of software development that specialises in things like sequencing DNA, macromolecular modelling, protein/peptide analysis, and so on. So having established this you can guess who some of the users would be. Those strange and mildly confused individuals we all know as geneticists.
Geneticists tend to fit a stereotype, they make proclamations about a "Gene for this" and a "Gene for that" and often appear in the media discussing "The Human Genome Project" where they initially thought they could categorise every human being on the planet according to a set of simplistic criteria. Problem is there is a paradox here, you need a very very large genome of some 100,000 genes all expressing singularly for a specific purpose, to set up such a simplistic model of the given gene pool. In plain language, you need to have each and every gene doing one single thing. For example when you need to have a gene for "Gayness" you say "Ah we have a single gene that makes someone gay". This sparkling example of single gene paradigm was espoused a few years ago by one Professor Dean Hamer, who, by a slight of Mendel's Astrology and a blob somewhere in lane in his electrophoresis box (migrated fragment of chromosome X) that seemed to appear every time the owners of said gene on chromosome X said they were gay. Well in the great scheme of things, this gene was given the name of "Xq 28". Now anyone who knows their genetics will tell you that this gene has yet to be named. Because "Xq"only defines the location of this gene. Not any official name referring to its purpose, function, resulting proteins from the coding exons etc etc.
This is where single genes cease to become paradigm. What does this gene actually do, what peptides, proteins, enzymes etc does it code for? And what function do these coded proteins etc actually do to make someone gay? The reality is of course far more complex, Whatever the gene codes for will interact with something else, sometimes whatever another gene's exons code for. This is a type of polygenic expression, as opposed to the single gene concept of "monogenic" expression. The smaller the number of genes found in a genome would indicate the higher probability of genes interacting with each other rather than them simply expressing directly as a single gene. So when the human genome project announced (with some disappointment) that there was only 33,000 genes. You can imagine the bewilderment. "It is more complex than we thought!"
And this is where I get myself all in a hysterical fit of laughter. You see geneticists love to say the following: "XX equals a girl, whatever you say, even if "she" is born with a penis, has a six pack, looks like Arnold Schwartzenegger, and says that "she" is a regular guy. Those XX chromosomes say that really, deep down she is a woman." Or "XY equals a boy, whatever you say even if "he" is born with a vagina, looks like a supermodel, has all the attributes of a woman she is secretly a man"
The sordid term they really use is "true gender" or "genetic sex" Now this is all built around two observations, First that most people born with XX are "female" and most people born with XY are "male" . But as anyone with a brain will tell you this is not always so. Secondly we are given a single gene justification for all this, in the form of "SRY". A gene on the Y chromosome. Now yes it does produce a protein that differentiates gonadal tissue into testicular tissue. (Called TDF). But with a mere 33,000 genes, and the demonstrable complexity of "sex determination", the monogenic SRY concept does not add up.
This is where many of the more unimaginative geneticists come to a dead end. They are so stuck with "XX/XY and Girls don't SRY!" that when the obvious, "Polygenic expression" slaps them in their faces, they go "DOH!" and then run to the protein scientists, who themselves tend to say "Well it is far more complex than that"
The reality is more complex, with AIS alone, there are numerous categories, and they can be as a result of many different AR (androgen receptor) mutations. These can be deletions, frame shifts, substitutions, missense mutations and so on. It can happen in one gene, and cause a very profound effect. But. you can have something like 40 or so types of mutation resulting in the same phenotype (Body type). But at the same time you could have one type of mutation resulting in many different phenotypes. This is because while you can pinpoint a single gene, the expression of that gene causes a cascade of consequences rather than just 1 particular mutation equals 1 particular phenotype. Because other genes interact or by expression vary the outcome in many different ways. The more alleles there are of a given gene the more complex it gets within the gene pool. In plain terms we are all individuals!
But given that I can start quoting examples of genes that are not in X or Y but the autosomes, that contain AR coding exons. The whole edifice of "XX/XY/and Girls dontSRY" starts to crumble. In sheer panic the geneticists, (Known as Genies) run around collecting blood samples from any hapless intersex person they can get their hands on and then run to the lab, And after a little spin of the centrifuge, you will find them with their Li-cor machines, Electrophoresis boxes, or micro-arrays. (micro array, hmm!). Desperately trying to simplify the picture into "Boy or Girl" And then you will find them pouring over their inheritance charts, with that Boolean arrogance (Mendels theory) trying to determine who is to blame for transmitting these "Bad genes"
They get to find the exons in the offending genes, and the mutation and then there is the challenge of the resulting peptides. Mention Chou Fasman equations and watch them puff up and say "This determines the shape of a peptide, by assigning specific values to the amino acid residues" And when you say something really awful like "Lets think of Prions, you know CJD, Mad Cow disease, or Mad scientist, how come you can get the same sequence but one becomes Beta sheets and the other becomes Alpha helices" And we are into proteomics, when pointing out that Chou Fasman equations have limits. OK Prions (The cause of mad scientist disease) are a different matter, but a good illustration. The proteins behave in many strange ways, take many strange shapes, and as such interact in many strange ways. And there are many reasons for that.
And it takes a protein scientist to look at this with an intuitive eye, good protocol, as well as some damn good lab facilities. They need to crystallise these proteins, throw X-rays at them, and use specialised software (Plug) to assess the results. The genies run into the wild blue yonder trying to figure out what to do next. Well the recent report of WNT-4 discussed elsewhere ("WNT-4") on this site, is a frightening example of what happens in the blue yonder.
The bottom line, is this. There is no such thing as an absolutely "Genetic" male or "Genetic" female in much the same way as there is no absolute "Male" or "Female" gender identity. Just a spectrum of expressions. There is no such thing as a "true gender" just a bias. The whole edifice of trying to make an intersex child "fit" into some more absolute image of one or the other sex is rank stupidity. This is why I find my self-esteem undermined when some genie hits me with "Oh I need to find a way of using computer models to prove you dont exist." But then if I dont exist, because of my intersex birthright, how can I have a brain to comprehend what the genie has in terms of specification, A brain to code the software, a brain and hands to actually type the code for the software, and arms and legs in order to physically give this work to the genie. Suffice to say I am fussy about who I distribute software to these days.
So to conclude, in my own confusing little way. I am left wondering when a Genie pops up in my "In-box" what they are about to come out with. And perhaps one day, when they get their heads round the concept of consciousness, self awareness and become a little introspective. Will they discover a gene for arrogant quacks. "AQ-PrP1" I still hope for that day as the status bar says "Receiving messages" and the inbox folder becomes highlighted. The only geneticist I would trust would be the geneticist who can discuss proteins with equal understanding. The example of WNT-4 is a prime example of just how divorced from biological as well as social reality, some geneticists can be.
Other articles by Sophia Siedlberg:
Web page copyright Derby TV/TS Group. Text copyright Sophia Siedlberg. 07.05.01 Last amended 05.02.05