Experts reveal how the male sex chromosome could disappear

Since the dawn of humanity, men have played a vital role in determining the sex of their offspring.

The Y chromosome, carried by roughly half of a man’s sperm, dictates whether a child will be male or female.

If the Y chromosome is present, a child will develop into a boy, whereas a lack of this strand of DNA will result in a girl.

Now scientists think the Y chromosome may disappear in less that five million years, leaving the future of men on planet Earth uncertain.

In an article for The Conversation, Dr Peter Ellis and professor Darren Griffin from the University of Kent discuss the implications of this genetic shift.

 

A man (pictured) possesses XY sex chromosomes and women have XX. The Y chromosome is important in reproduction but has little other function critical for life, as a result the chromosome has become shrivelled and small over many generations 

IS THE Y CHROMOSOME DISAPPEARING?

The human Y-chromosome is one of the smallest in the genome. 

It is carried by roughly half of a man’s sperm, and dictates whether a child will be male or female.  

Despite this, it carries very little other important information. 

And researchers think it is quickly disappearing. 

The number of genes on the Y has dropped from over 1,000 to roughly 50, a loss of more than 95 per cent. 

If the same rate of degeneration continues, the Y chromosome has just 4.6 million years left before it disappears completely. 

The Y chromosome may be a symbol of masculinity, but it is becoming increasingly clear that it is anything but strong and enduring. 

Although it carries the ‘master switch’ gene, SRY, that determines whether an embryo will develop as male (XY) or female (XX), it contains very few other genes and is the only chromosome not necessary for life. 

Women, after all, manage just fine without one.

What’s more, the Y chromosome has degenerated rapidly, leaving females with two perfectly normal X chromosomes, but males with an X and a shrivelled Y. 

If the same rate of degeneration continues, the Y chromosome has just 4.6 million years left before it disappears completely. 

This may sound like a long time, but it isn’t when you consider that life has existed on Earth for 3.5 billion years.

The Y chromosome hasn’t always been like this. 

If we rewind the clock to 166 million years ago, to the very first mammals, the story was completely different. 

The early ‘proto-Y’ chromosome was originally the same size as the X chromosome and contained all the same genes. 

However, Y chromosomes have a fundamental flaw. 

Unlike all other chromosomes, which we have two copies of in each of our cells, Y chromosomes are only ever present as a single copy, passed from fathers to their sons.

This means that genes on the Y chromosome cannot undergo genetic recombination, the ‘shuffling’ of genes that occurs in each generation which helps to eliminate damaging gene mutations. 

Deprived of the benefits of recombination, Y chromosomal genes degenerate over time and are eventually lost from the genome.

Despite this, recent research has shown that the Y chromosome has developed some pretty convincing mechanisms to ‘put the brakes on’, slowing the rate of gene loss to a possible standstill.

For example, a recent Danish study, published in PLoS Genetics, sequenced portions of the Y chromosome from 62 different men and found that it is prone to large scale structural rearrangements allowing ‘gene amplification’ – the acquisition of multiple copies of genes that promote healthy sperm function and mitigate gene loss.

The study also showed that the Y chromosome has developed unusual structures called ‘palindromes’ (DNA sequences that read the same forwards as backwards – like the word ‘kayak’), which protect it from further degradation. 

The Y chromosome is one of the sex chromosomes in animals and is responsible for the sex determination of unborn offspring. The chromosome is shrinking and is at risk of disappearing in the future 

The Y chromosome is one of the sex chromosomes in animals and is responsible for the sex determination of unborn offspring. The chromosome is shrinking and is at risk of disappearing in the future 

They recorded a high rate of ‘gene conversion events’ within the palindromic sequences on the Y chromosome – this is basically a ‘copy and paste’ process that allows damaged genes to be repaired using an undamaged back-up copy as a template.

Looking to other species (Y chromosomes exist in mammals and some other species), a growing body of evidence indicates that Y-chromosome gene amplification is a general principle across the board. 

These amplified genes play critical roles in sperm production and (at least in rodents) in regulating offspring sex ratio. 

Writing in Molecular Biology and Evolution recently, researchers give evidence that this increase in gene copy number in mice is a result of natural selection.

On the question of whether the Y chromosome will actually disappear, the scientific community, like the UK at the moment, is currently divided into the ‘leavers’ and the ‘remainers’. 

WHAT IS THE Y CHROMOSOME  

The Y chromosome is one of two sex chromosomes found in humans – the other is the X chromosome. 

It is the only chromosome in an organism that isn’t essential for life – women survive just fine without one, after all. 

The sex chromosomes are different from each other, and this makes the pairing unique.

In humans, the 22 other pairs of chromosomes – the autosomes – are identical.

The Y chromosome carries the ‘master switch’ gene, SRY, that determines whether an embryo will develop as male (XY) or female (XX). 

Despite this very important ability, there is very little other important genetic information stored on the Y chromosome. 

The Y chromosome (right) is significantly smaller than the X chromosome (left). The Y chromosome is crucial in determining the sex of an unborn child and is only present in males 

The Y chromosome (right) is significantly smaller than the X chromosome (left). The Y chromosome is crucial in determining the sex of an unborn child and is only present in males 

Y chromosomes have a fundamental flaw, unlike all other chromosomes they are only ever present as a single copy, passed from fathers to their sons.

As there is only one copy, this means the chromosome can not undergo full genetic shuffling.

This process – called recombination – protects from mutations and prevents damage.

Without it, the chromosome is slowly shrivelling up over many generations. 

To protect against further degradation and shrinkage, the Y chromosome has developed ‘palindromes’.

Much like ‘racecar’ and ‘kayak’, these are chunks of DNA that read the same backwards as they do forwards, protecting it from being broken down. 

The latter group argues that its defence mechanisms do a great job and have rescued the Y chromosome. 

But the leavers say that all they are doing is allowing the Y chromosome to cling on by its fingernails, before eventually dropping off the cliff. 

The debate therefore continues.

A leading proponent of the leave argument, Jenny Graves from La Trobe University, in Australia, claims that, if you take a long-term perspective, the Y chromosomes are inevitably doomed – even if they sometimes hold on a bit longer than expected. 

In a 2016 paper, she points out that Japanese spiny rats and mole voles have lost their Y chromosomes entirely – and argues that the processes of genes being lost or created on the Y chromosome inevitably lead to fertility problems. 

This in turn can ultimately drive the formation of entirely new species.

As we argue in a chapter in a new e-book even if the Y chromosome in humans does disappear, it does not necessarily mean that males themselves are on their way out. 

Even in the species that have actually lost their Y chromosomes completely, males and females are both still necessary for reproduction.

In these cases, the SRY ‘master switch’ gene that determines genetic maleness has moved to a different chromosome, meaning that these species produce males without needing a Y chromosome. 

Japanese spiny rats and mole voles (pictured) have lost their Y chromosomes entirely – and  the processes of genes being lost or created on the Y chromosome could see the formation of entirely new species 

Japanese spiny rats and mole voles (pictured) have lost their Y chromosomes entirely – and the processes of genes being lost or created on the Y chromosome could see the formation of entirely new species 

However, the new sex-determining chromosome – the one that SRY moves on to – should then start the process of degeneration all over again due to the same lack of recombination that doomed their previous Y chromosome.

However, the interesting thing about humans is that while the Y chromosome is needed for normal human reproduction, many of the genes it carries are not necessary if you use assisted reproduction techniques. 

This means that genetic engineering may soon be able to replace the gene function of the Y chromosome, allowing same-sex female couples or infertile men to conceive. 

However, even if it became possible for everybody to conceive in this way, it seems highly unlikely that fertile humans would just stop reproducing naturally.

Although this is an interesting and hotly debated area of genetic research, there is little need to worry. 

We don’t even know whether the Y chromosome will disappear at all. 

And, as we’ve shown, even if it does, we will most likely continue to need men so that normal reproduction can continue.

Indeed, the prospect of a ‘farm animal’ type system where a few ‘lucky’ males are selected to father the majority of our children is certainly not on the horizon. 

In any event, there will be far more pressing concerns over the next 4.6 million years. 



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