Emma Hilton Profile picture
Aug 9, 2024 16 tweets 9 min read Read on X
OK, science geeks. Sex testing and sport.

There are many people spreading misinformation about the reliability of sex testing, repeating arguments made for its abolition some 25 years ago.

I don’t know if they have noticed that we’ve undergone something of a genetics revolution over the past few decades 😀Image
So let’s look at some chromosomes.

Historically, chromosomes were analysed by adding a chemical dye to cells and looking at their shape and size. Given that most animals have two copies of each chromosome, the pairs could be lined up by matching their shape and size.

These are chromosomes stained with a dye called hemotoxylin. I still use this dye in the lab today.Image
Nettie Stevens discovered sex chromosomes in the early 1900s, after noting that female worms had twenty big chromosomes while male worms had nineteen big chromosomes and plus a small one.

Further, she noted that Worm Sperm either had ten big chromosomes or nine big chromosomes plus a small chromosome.

She reasoned that the small chromosome carried by some sperm makes male babies, while the sperm carrying the tenth big chromosome made female babies.

Brilliant woman, but her discoveries were overshadowed by the male scientists of the era, of course.Image
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In the ensuing decades, improvements in sample preparation, the types of dyes used, and the optics of looking at tiny samples, meant scientists could start to score chromosomes not just by size and shape, but by the pattern the dyes made on each pair of chromosomes. This made the tedious work of matching up pairs much easier.Image
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In the 1940s, Murray Barr discovered a tightly-packed ball of chromosome material hanging around the edges of the female cell nucleus. He named this the Barr Body.

He also developed, in the 1950s, the cheek swab as a way of sampling human chromosomes.
Image
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In the 1960s, Mary Lyon discovered that in female mammals, who have two copies of the X chromosome, one of those Xs is shut down. We now know that this process is needed to regulate the amount of active X chromosome genes a cell can handle. Males, with only one X, don’t need to do this.

The tightly-packed ball of chromosome material discovered in the 1940s - the Barr body - is this inactivated X chromosome. The process of packing the X ball is called Lyonization. It is this process of shutting down one X chromosome that gives us beautiful (female) lion-like creatures.

The process is also important in understanding how sex-linked genetic diseases affect females differently. Including in my own research.Image
It was soon realised that looking for Barr bodies - which give a very intense and obvious dye signal – was a quick way of checking what sex an animal was.

Including, in 1968, human animals playing female sport.

Females with two Xs have this bright dye spot, males with only one X don’t. Simple, right?

But some males have an extra X (XXY, Klinefelter Syndrome) and they pack their second X down, just like females, giving a positive signal on the Barr body test. And some females only have one X (X0, Turner Syndrome) and no Barr body.

The Barr body test could tell you about second or extra X chromosomes, but this wasn’t the best way to understand the sex of the person.Image
In 1992, sex testing sport switched to the more accurate method of trying to find a gene on the Y chromosome called SRY. This gene is considered a master switch in male development.

The test was done in a chemical reaction (the polymerase chain reaction, for the geeks) to rapidly replicate large amounts of the SRY gene from a DNA sample, which could then be detected by routine DNA gel analysis. If SRY isn’t in the sample, you don’t get any replication.

Can anyone take a guess at the sex of the fetus in the image below?Image
But, of course, some males may have the SRY gene but they do not develop as a healthy male. That is, they have a disorder of sex development.

In 1999, sex testing was abolished, given the unusual results popping in the female athletes, the potential for trauma in those athletes, and the prevailing opinion that having a male XY DSD probably didn’t matter in female sport.
Of course, today, that prevailing opinion from over two decades ago has been overturned. We understand more about sports performance, male advantage, and what anatomical features contribute to it.

We have far easier and cheaper ways of looking at chromosomes and DNA, and we have stronger ethical frameworks regarding genetic testing. The “bad old days” that the International Olympic Committee evoke to obstruct sex testing that would protect the female category is a red herring.
Today, testing for sex is routine. Our sampling is better, and we can find sex chromosomes from really small amounts of suboptimal material. As many mother’s will know, we can find fetal sex chromosomes from Mum’s blood sample. Our dyes are better. Our imaging is better.

Forget dyes that showed us size and shape, forget dyes that give us patterns of bands, and start looking at light-emitting molecular dyes that bond to specific genes on specific chromosomes instead (and light up two green Xs and one red SRY). Look at how a computer can read those signals.Image
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I mean, even this Beetle Lady can do it ;)

The flashes of red light you see? That’s from my published research, flagging an X chromosome gene that underpins a sex-linked genetic disease that is lethal in male fetuses. Image
Forget those gels of a single rapidly replicated gene and start thinking about putting those light-emitting flags into the chemical reaction instead. The more replication, the brighter the light signal. And why not add multiple genes to the same process. And trust me, a light detector can see things your eye cannot.

See those differently coloured lines? They are different pieces of DNA being rapidly replicated in the same sample.Image
And why stop at whether a gene is there or not? Why not look at the sequence of a gene? Gone are the painstaking days of moving down a radioactive image with a ruler. I can get a computer to read a gene sequence for me in a few days for a few pounds. And even this is by a fairly cheap and old-fashioned method.Image
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In 2003, the Human Genome Project was completed. This was first full sequencing of all the genes (plus everything else in between) on all the chromosomes in a human being.

It took a global effort 13 years to complete, and cost $billions.

Today, not so much. We can sequence the entire gene set of a human being in a matter of weeks for $hundreds.Image
The IOC is fervently hoping that renewed calls for sex testing sport quietly go away.

Ironically, they probably will. Because now on the horizon of this genetic revolution is, quite simply, standard screening of whole genomes in newborn babies.

No longer will we have to trust a midwife to take a guess 😉Image
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More from @FondOfBeetles

Sep 26
Shocking from @nrarmour here.

“Most of the studies used to ban transgender women so far are based on the performances of cisgender men, which scientists have argued is not an appropriate comparison.”

That’s me, @TLexercise and others.

“Others” including the ones moaning about not having their say. You know, the say they took for granted. The one they didn’t tell @nrarmour about.

Ever read their archery paper?Image
Image
“Other studies have compared the performances of transgender women athletes with sedentary cisgender women, also argued as an inappropriate comparison.”

NGL, bit flummoxed here. Any ideas?

If you want inappropriate comparisons, try the Fat Bloke Study. Written by the scientists moaning about being excluded.

Nancy @nrarmour links to it. Fails to care that the reason why trans-identifying males can’t jump as high as the female comparators is that they are 20kg heavier, carrying way more fat, and are far less fit.
For disclosure, I have not been part of this IOC working group.
Read 4 tweets
Sep 22
So the actual paper is fine. I’ve only skimmed, but it looks at gene expression between male and female humans and mice, to answer questions about the evolution of genes associated (or not) with sex. Image
The authors - who admit in peer review that these graphs exaggerate overlap - suggest in discussion that if one were to look at gene expression in, say, the skin from an individual within the overlap, you could not identify whether that individual was male or female.
It’s a high-level take on a more simple principle in this debate: overlapping height, and is a 5’8” individual male or female?

The authors use the same analogy in the introduction.
Read 9 tweets
Sep 20
World Athletics reveals the scale of the issue of male athletes with DSDs competing in the female category in international track and field.

I am not surprised at the number (I suspect the true figure is higher).

Nobody working in this area will be surprised at the number.
Even the ones who said it was “just a few”. They knew the scale.

Even the ones who said “you’re racist” as they fervently argued that black women are fundamentally different to white women. They knew the scale.
Also a poorly kept “secret” is that the majority of this cohort are 5ARD, where males can appear to be female at birth but have male-pattern athletic advantage.

This is the DSD that Caster Semenya has.
Read 6 tweets
Sep 13
I had no experience of Charlie Kirk beyond the occasional clip that went past my timeline, none of which I engaged with deeply.

From this UK POV, he was a preppy fundie Christian conservative doing preppy fundie Christian conservative stuff.

No opinion about him beyond characterising him as above, and not thinking at all about that.

But I have rarely wanted to defend anyone more.
Why would I want to defend a preppy fundie Christian conservative? Why did my gut plummet and my heart sink when I learned he had died?

Almost all of us can understand the human POV.
I wasn’t exposed to him. I had to look up everything everyone was saying he said.

None of the below is about me and his views. It’s about the appalling dishonesty I see.

The way social media works. Or doesn’t.
Read 7 tweets
Aug 19
So, this paper is being widely circulated as a gotcha.

First thing, any author whose affiliation is "The University of the Sunshine Coast, Sippy Downs, Australia" is probably winning at life.

But let's talk about bird sex.

royalsocietypublishing.org/doi/10.1098/rs…
Birds use genetic sex determination, just like humans.

The "make male" gene for humans is called SRY, and it lives on the Y chromosome.

If you have functional SRY and its downstream transcriptional storm, you will make testes and make male.
Birds differ. Their "make male" gene is called DMRT1.

It pretty much works like SRY, in that it's immediate downstream target is the parallel gene in both humans and parrots, and the ensuing transcriptional storm triggers testes development (testes being male, of course).
Read 16 tweets
Aug 9
"This model of estradiol’s role in improving resistance to wound sepsis predicts at least four “sexes” across two treatment groups: females who are in the proestrus phase, females who are in the diestrus phase, females who are postmenopausal, and males."

This is Sarah Richardson, of the Fuentes review.

Four "sexes", three of them female and the other male. JFC.


Also in the frame as new sexes, fat men, pregnant women and children. JFC.scholar.harvard.edu/files/srichard…
A cell line derived from an unusual cervical cancer (one that spontaneously immortalised) is not even "human", let alone "female", apparently.

It's cervical cancer cell line. Only women have cervices (pl?). JFC.
Read 9 tweets

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