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  • An international team of researchers has successfully completed the sequencing of the Y chromosome.

  • Understanding the male sex chromosome has also revealed 41 additional protein-coding genes.

  • This discovery could create additional avenues for research into disease risks.

Together, more than 100 researchers from around the world have, for the first time, completely sequenced the male sex chromosome, the last mysterious piece of the human genome.

“Just a few years ago, half of the human Y chromosome was missing (from ref) – difficult and complex satellite regions,” said Monika Cichova, co-lead author of the paper and a postdoctoral researcher in biomolecular engineering at UCLA. California Santa Cruz said in a news release. “At the time, we didn’t even know if it could be sequenced, it was just so confusing. This is really a huge shift in what’s possible.”

The researchers revealed their findings by publishing a paper in the journal nature.

The complexity of the male sex chromosome structure has remained elusive for decades. The completion of the sequencing adds 30 million new bases to the human genome repertoire, revealing 41 additional protein-coding genes. This could provide pivotal insight for research into reproduction.

“Now that we have this 100 percent complete sequence of the Y chromosome, we can identify and explore many genetic variations that can affect human traits and diseases in a way that we have never been able to do before,” says study co-author Dylan Taylor. . The first author, a Johns Hopkins University geneticist and doctoral candidate, said in a press release.

Thanks to repetitive molecular patterns in the Y chromosome, sequencing was difficult. But new technology and bioinformatics algorithms allowed the team to crack the code and reveal the structure of sperm-regulating gene families.

“We have completed the wiring diagram for all these genetic switches that are activated across the Y chromosome, many of which are important for genetic contributions to male development,” Michael Schatz, a professor at Johns Hopkins University, said in a press release. We have reached a point where scientists can start using this map.

Some of the Y chromosome DNA is organized in palindromes, or long sequences (potentially spanning more than a million base pairs) that are identical forward and backward, which made them particularly difficult to read. Furthermore, because a large portion of the Y chromosome sequence was missing from previous attempts, understanding the complex Y chromosome has become particularly difficult.

The new sequencing method allowed the team to pinpoint exactly where the inversion occurred in an alternating sequence. “It was the Y chromosome that lacked most of the sequences from the previous reference genome,” Arang Rhee, a researcher at the National Human Genome Research Institute and lead author of the paper, said in a press release. “It was always annoying to know that we were missing half a Y whenever we tried to do any reference analysis.”

The comprehensive research was led by the National Human Genome Research Institute and the Telomere to Telomere Consortium. The groups hope this work will help researchers better understand human biology and cancer risks.

In addition, the Y chromosome can vary greatly between two people. These differences can now be explored and may open up a better understanding of disease risks.

“It is exciting to finally be able to see these sequences in heterogeneous (densely packed) regions for the first time,” Karen Mega, a researcher at the University of California, said in a press release. “Finally, we can design experiments to test the effect and function of these previously unexplored parts of the Y chromosome.”

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