May 28, 2024

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Nature: First Complete Gene Sequencing of the Human Y Chromosome Achieved

Nature: First Complete Gene Sequencing of the Human Y Chromosome Achieved



Nature: First Complete Gene Sequencing of the Human Y Chromosome Achieved.

The human Y chromosome has long posed challenges in terms of sequencing and assembly due to its intricate structure.

Over half of the Y chromosome is missing from the current human reference genome assembly, leaving our understanding of it quite incomplete.

This knowledge gap has limited our comprehension of its composition, complexity, and variations among different populations.

 

On August 23, 2023, Nature published two concurrent papers detailing the assembly and analysis of the human Y chromosome, marking the completion of the last fully sequenced human chromosome.

These research findings fill in numerous gaps in the current Y chromosome reference, offering insights into the evolution and variations among different populations.

The first paper, titled “The complete sequence of a human Y chromosome,” is authored by Adam Phillippy from the National Institutes of Health in the United States.

 

Nature: First Complete Gene Sequencing of the Human Y Chromosome Achieved

 

 

This study reports the complete sequence of 62,460,029 base pairs of the human Y chromosome.

The assembly corrects multiple errors in the current human reference genome assembly regarding the Y chromosome.

Additionally, it adds over 30 million base pairs to the reference genome, revealing the complete structures of multiple gene families and confirming 41 new protein-coding genes. These results also debunk hypotheses in microbiome research that previously misclassified unknown human Y chromosome sequences as bacterial sequences.

The second paper, titled “Assembly of 43 human Y chromosomes reveals extensive complexity and variation,” is authored by Charles Lee from the Jackson Laboratory for Genomic Medicine.

 

Nature: First Complete Gene Sequencing of the Human Y Chromosome Achieved

 

The research team assembled Y chromosomes from 43 males representing 21 different populations worldwide.

These assemblies provide detailed insights into the genetic differences of the Y chromosome throughout 183,000 years of human evolutionary history.

The results unveil new DNA sequences, characteristics of conserved regions, and molecular mechanisms underlying the complex structure of the Y chromosome.

 

 

Paper Links:
First Paper
Second Paper

 

 

 

Nature: First Complete Gene Sequencing of the Human Y Chromosome Achieved

(source:internet, reference only)


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