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 4.6m 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 166m 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.