The Y Chromosome: Men Really Are Different

Our view of the differences between the sexes has recently undergone radical revision. How do males and females differ? Seen through a biologists eyes, the most basic difference between males and females is that all females have two copies of the “so-called” X chromosome. The X chromosome is about the same size as other 22 human chromosomes, which also occur in pairs, and like them is packed with some 1000 genes.


How can a cell detect and edit out a mutation involving only one or a few nucleotides in one strand of DNA? How does it know which of the two DNA strand is the correct version and which the altered one? This neat trick is achieved by every cell having two nearly-identical copies of each chromosome. By comparing the two versions with each other, a cell can identify the typos and fix them.


Its very important, this repairing of mistakes. Most biologists think the need for this repair is the reason sex evolved. Asexual organisms, which dont do meiosis and so cannot pair-up their chromosomes to edit them, accumulate mutational damage in a process of irreversible genetic decay biologists call Mullers Ratchet, a progressive loss of genes that can lead to eventual extinction.

So what are we to make of males? Males, by contrast to females, have only one copy of this X chromosome, not two. The other chromosome of the pair in males is called the Y chromosome and is much smaller than the X. Biologists thought until very recently that the Y chromosome had only a few active genes. Because there is no other Y to serve as a pairing partner in meiosis, most of its genes had been thought to have decayed, the victims of Mullers ratchet, leaving the Y chromosome a genetic wasteland with only a very few active genes surviving on it.

One of the few genes documented to be on the Y chromosome (its inherited, seen in families that carry it in all males and no females) causes very hairy ears.

Another gene known to reside on the Y chromosome is a key sex determination gene. For the first 40 days after conception, all human embryos develop in much the same way. Then, a sex-determining gene on the males Y chromosome called SRY (for Sex-determining Region of the Y chromosome), comes into play. The product of the SRY gene converts the gonad cells of the early human embryo into testes, which in turn triggers development of male sexual organs. If expression of SRY is blocked, the embryos gonad cells go on to become ovaries and female sexual organs develop. In other words, all human embryos will develop into females unless they are masculinized by the product of the SRY gene.

This view of males as females with an extra gene has a profound implication — that there is very little genetic difference between the sexes, just a gene or so. All the Men Are From Mars, Women Are From Venus differences, although real enough, are in this view the result of hormonal differences. Said suscintly, males are what testosterone makes them. Due to such hormone differences, as many as 15% of mammalian genes are more active in one sex than the other.

We now know this view to have been way too simple. In June of 2003, researchers reported the full gene sequence of the human Y chromosome, and it was nothing like biologists had expected. The human Y chromosome contains not one or two active genes, but 78! Some like SRY are concerned with male development, most of the others with sperm production and fertility. A few, like hairy ear, have no obvious role in sex. One of this later group makes a component of ribosomes (complex tiny engines in the cell which assemble proteins), meaning that every ribosome in a mans body is slightly different from those in a womans.

Taking all these genes into account, geneticists conclude that men and women differ by 1 to 2 percent of their genomes — which is the same as the difference between a man and a male chimpanzee (or a woman and a female chimpanzee). So we are going to have to reexamine the basis of the differences between the sexes. A lot more of it may be built into the genes than we had supposed.

The sequence of the Y chromosome gives us the answer to another question that has plagued biologists: Why are the X and Y chromosomes so different? The Y chromosome is much smaller than the X, and can only pair up with the X at the tips. Thus there can be no close pairing between X and Y during meiosis, the sort of pairing that allows the proofreading and editing discussed above. We can now see that there is a very good reason evolution has acted to prevent the close pairing of X and Y — those 78 Y chromosome genes. Because close pairing allows the exchange of large segments as well as small ones, any association of X and Y would lead to gene swapping, and the “male-determining” genes of the Y chromosome would sneak into the X, making everybody male.

One mystery remains. If the Y chromosome cannot pair with the X chromosome, how does it make do without copy-editing to prevent the accumulation of mutations? Why hasnt Mullers ratchet long ago driven males to extinction? The answer to this question is right there for us to see in the Y chromosome sequence, and an elegant answer it is. Most of the 78 active genes on the Y chromosome lie within eight vast palindromes, regions of the DNA sequence that repeat the same sequence twice, running in opposite directions, like the sentence Madam, Im Adam, or Napoleons quip Able was I, ere I saw Elba.

A palindrome has a very neat property: it can bend back on itself, forming a hairpin in which the two strands are aligned with nearly identical DNA sequences. This is the same sort of situation — alignment of nearly identical stretches of chromosomes — which permits the copy-edit of the X chromosome during meiosis. Thus in the Y chromosome, mutations can be corrected by conversion to the undamaged sequence preserved on the other arm of the palindrome. Damage does not accumulate, Mullers ratchet is avoided, and males persist.

©2003 Txtwriter Inc.

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