Genetics: The sequence of the human Y chromosome. Nature Nature’s portfolio

Two research papers revealing the genome assembly and genome analysis results of the human Y chromosome will be published this week.natureThe Y chromosome was the only human chromosome for which its complete genome had not yet been sequenced. Our findings fill in a number of gaps in the current Y chromosome reference sequences and provide insights into Y chromosome evolution and diversity in different populations.

Due to its complex structure, the human Y chromosome is difficult to sequence and assemble, and more than half of the Y chromosome is missing from the current reference human genome assembly. Therefore, the Y chromosome is poorly understood and our knowledge of its composition, complexity and population differences is limited.

Adam Phillippe and the Telomere-to-Telomere Consortium now present the complete sequence of the human Y chromosome of 62,462,000 base pairs. This assembly corrects a number of Y-chromosome errors in the current human reference genome assembly, adds more than 30 million base pairs of new sequences to the existing reference sequence, and changes the structure of a number of gene families. Coding genes have been identified. In addition, previous microbiome research suggested that the nucleotide sequence of the human Y chromosome, which was unknown at the time, is the nucleotide sequence of bacteria, but the results of this study also correct this hypothesis.

Meanwhile, Charles Lee and colleagues assembled the human Y genome based on the Y chromosomes of 43 males representing 21 human populations worldwide. This compilation details genetic variation of the Y chromosome over the 183,000 years of human evolution. Genome assembly of the human Y chromosome has yielded insights into unknown DNA sequences, features of conserved regions, and molecular mechanisms that contribute to the complex architecture of the Y chromosome.

doi:10.1038/s41586-023-06425-6

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