The 'weird' male Y chromosome has finally been fully sequenced. Can we now understand how it works, and how it evolved?
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Thursday, August 24, 2023
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It’s also small and seriously weird; it carries few genes and is full of junk DNA that makes it horrendous to sequence.
Key Points:
- It’s also small and seriously weird; it carries few genes and is full of junk DNA that makes it horrendous to sequence.
- However, new “long-read” sequencing techniques have finally provided a reliable sequence from one end of the Y to the other.
Making baby boys
- The embryonic testes make male hormones, and these hormones direct the development of male features in a baby boy.
- Female hormones then direct the development of female features in the baby girl.
A DNA junkyard
- It is smaller and bears few genes (only 27 compared to about 1,000 on the X).
- The Y also has a lot of DNA sequences that don’t seem to contribute to traits.
- This last DNA class occupies big chunks of the Y that literally glow in the dark; you can see it down the microscope because it preferentially binds fluorescent dyes.
Why the Y is weird
- We have a lot of evidence that 150 million years ago the X and Y were just a pair of ordinary chromosomes (they still are in birds and platypuses).
- Then SRY evolved (from an ancient gene with another function) on one of these two chromosomes, defining a new proto-Y.
- Read more:
Men are slowly losing their Y chromosome, but a new sex gene discovery in spiny rats brings hope for humanity
Sequencing Y was a nightmare
- They’ve done this using short-read sequencing, which involves chopping the DNA into little bits of a hundred or so bases and reassembling them like a jigsaw.
- But it’s only recently that new technology has allowed sequencing of bases along individual long DNA molecules, producing long-reads of thousands of bases.
So what’s new on the Y?
- A few new genes have been discovered, but these are extra copies of genes that were already known to exist in multiple copies.
- The border of the pseudoautosomal region (which is shared with the X) has been pushed a bit further toward the tip of the Y chromosome.
- But perhaps the most important outcome is how useful the findings will be for scientists all over the world.