The Y chromosome is most commonly associated with individuals assigned male at birth, but may be found in others, such as intersex people.
While there are relatively few genes on the Y chromosome, the ones that are present are complex and dynamic, and code for important functions such as spermatogenesis, the production of sperm.
Monika Cechova, co-lead author on the paper and postdoctoral scholar in biomolecular engineering at UCSC says “[Few years] back.. we didn’t even know if it could be sequenced, it was so puzzling. This is really a huge shift in what’s possible.”
“It was the Y chromosome that lacked the most sequences from the previous reference genome,” said Arang Rhie, a staff scientist at the National Human Genome Research Institute and the paper’s lead author. “It was always irritating knowing we were missing half the Y whenever we tried to do any reference-based analysis. I was really excited to curate the first complete Y, to see what we were actually missing, and what we can now do.”
It’s been shown that people with Y chromosomes can lose some or all of that genetic material as they age, but scientists have never fully understood why this happens and the effects it may have. The complete Y chromosome reference may help to illuminate this mystery.
In collaboration with the Human Pangenome Reference Consortium, the researchers plan to incorporate complete Y chromosome sequences into the individual genomes that make up the pangenome. This will help scientists understand how the Y chromosome varies among people of different ancestral backgrounds and provide a better point of reference for understanding the Y across the diversity of the human population.
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