For decades, the Y chromosome—one of the two human sex chromosomes—has been notoriously challenging for the genomics community to sequence due to the complexity of its structure.
. It was clear at that point that emerging technology and high-coverage long-read datasets had the potential to complete entire chromosomes end to end, which led to the launch of the T2T Consortium, co-led by Phillippy and Miga.
The complex structure of the Y chromosome has lent itself to rapid evolution within its gene families. In fact, the Y chromosome is the most rapidly changing human chromosome, and even the most rapidly changing chromosome among great apes. This means two healthy people's Y chromosomes can look very different—for example, one person might have 40 copies of one gene, while another person has 19 copies.
The 30 million new bases added to the Y chromosome reference will also be crucial for studying genome evolution. It will now be possible to study specific and unique Y chromosome sequence patterns, such as the structure of the two satellites and the location and copy numbers of the genes. "It is exciting to be able to finally see these sequences in heterochromatic [densely-packed] regions for the first time. Finally, we can design experiments to test the impact and function of these previously unexplored parts of the Y chromosome," Miga said.
"That was a surprising thing," Rhie said."People were guessing at it, but no one could prove that this was happening until now.
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