In 2003, Oxford University
geneticist Bryan Sykes claimed that the human Y chromosome was “crumbling
before our very eyes”. He
warned that the demise of men was imminent.2 However,
doomsday predictions of Y-chromosome decay may have been a little hasty.
Compared to most
chromosomes, Y is rather small. It has about 70 million base pairs and houses
about 78 protein-coding genes (of the estimated 25,000 in the human genome).
Why is the Y
chromosome in such peril?
Since
the Y chromosome doesn’t have a ‘partner’, it cannot engage in a process known
as genetic recombination. During meiosis, chromosome pairs line up, join and
swap genetic material in a process called ‘recombination’. This is why two
parents can have lots of children that are physically different from each
other; the individual sets of chromosomes that each parent passes on are
unique, highly-shuffled versions of their own chromosome pairs. This shuffling
process enables a mutated chromosome to purge itself from some harmful
mutations (see figure 1). But since the Y chromosome does not undergo
recombination, mutated portions of it cannot be cut-and-paste over with a
‘healthier’ version. Thus Y chromosome mutations supposedly keep
piling up. This inability of the Y chromosome to engage in recombination is one
of the key reasons fuelling belief about its demise.
Moreover, the Y chromosome is supposedly bombarded by more
mutations. Men produce sperm throughout their life,
whereas women have a set number of egg cells at birth. This means that when men
reproduce, their sperm has gone through more rounds of cell divisions, which
means there’s more opportunity to accumulate mutations.
urthermore, evolutionary assumptions have boosted claims
about the demise of the Y chromosome. The X and Y chromosomes are believed to
have been a standard pair of non-sex chromosomes (autosomes) 300 million years
ago. Since this time the X chromosome has supposedly maintained most of its
genes, whereas the Y chromosome has decayed and shortened dramatically. That’s
why this chromosome is often referred to as a ‘profoundly degenerate X
chromosome’.
Y-demise proponents have also pointed out that many of the
genes it contains have been rendered non-functional by mutations. Bryan Sykes
calls it a “graveyard of rotting genes.
Self-healing
chromosome
Although
there may appear to be little future left for the Y chromosome, further
research has revealed previously unsuspected ways of self-repair. The Y
chromosome’s ability to heal itself is due to its long palindromic sequences
(sequences that read the same in either direction). The Y chromosome contains
eight large palindromes with genes imbedded in them—the largest is almost 3
million DNA ‘letters’ from end to end. These have earned the Y chromosome the
nickname ‘a genetic hall of mirrors’.
So how do these help the chromosome repair itself? If a gene in
one arm of a palindrome is corrupted by mutation, the middle of the palindrome
can act like a hinge, bringing the two arms together. Then, in a process known
as gene conversion, the ‘healthy’ gene in the
complementary arm overwrites and restores the sequence in the mutated gene (see
figure 2). This process helps explain why intact genes tend to reside in the
palindrome arms, whereas the corrupted copies of these genes reside elsewhere.
How the Y chromosome heals itself. A – One of the palindromes has a mutated gene (M) and a normal copy of the gene (N) in opposite ‘arms’. B – The middle of the palindrome acts like a hinge, bringing the two genes in close contact. Gene conversion restores the mutated gene. C – Both arms of the palindrome end up with normal copies of the gene.
Conclusion
What
the Y chromosome is telling us is that the neo-Darwinian mechanism of mutation
and selection consistently degrades genetic software, as opposed to upgrading
it. Though males are not doomed in the way Sykes claims, overall genome decay
is a real phenomenon, and the more we appreciate the extent of the problem, the
more it undermines the validity of the big picture of evolution.
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