The Y chromosome is deciphered, the human genome is complete

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The last piece of the human genome puzzle has been deciphered. A team of scientists managed to completely sequence the Y chromosome, the genetic structure that determines male biological sex in humans.

It is well known that living beings have genetic instructions that dictate how they should function and develop. In humans, the genetic library is stored in 3 billion base pairs of DNA distributed over 23 pairs of chromosomes. The chain of chromo Phone Number List somes is replicated in most cells in the body; This way, each of them knows exactly what to do and how to group together. If the human is female, his cells will have an X chromosome and, if he is coded as male, he will have the Y chromosome.

Knowing in depth the structure of chromosomes allows scientists to investigate the plans of the human species. Through the human genome (the complete DNA sequence within each cell), researchers can learn how genetic diseases work. Under the same logic, identifying and isolating each compound on the Y or X chromosome means finding the source of the conditions exclusive to men and women.

A dream that took 180 years to come true
Since the discovery of chromosomes in 1842, delving into the instructions of humans was an idea as fantastic as it was impossible. It was not until 2003 that, thanks to the mastery of science, a first approach to the human genome was achieved. Although it was the most complete until then, it still had gaps within the 23 chromosomes. From that moment on, geneticists worked to achieve increasingly complete models of all human DNA.

The most recent compendium of the human genome was officially published on March 31, 2022, 180 years after the first sighting of a chromosome in a plant. Although it was considered a better model than the 2003 model, the scientists clarified that it still had gaps in complementary information: among them were blurry fragments of the Y chromosome, the male indicator.

“The human Y chromosome has been notoriously difficult to sequence and assemble due to its complex repetitive structure that includes long palindromes, tandem repeats, and segmental duplications. As a result, more than half of the Y chromosome was missing,” explains the article The complete sequence of a human Y chromosome, published in Nature .

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Reducing the 1000 pieces of the Y chromosome puzzle
To understand why the Y chromosome and other parts of the human genome could not be sequenced, geneticists have the following analogy: the task is like putting together a 1,000-piece puzzle of a cloudy sky. If all the pieces look the same, the assembler doesn't know where one cloud begins and another ends.



In order to clear that cloudy sky, the researchers used sequence patches, with which they gradually filled in a human's instruction manual. With the help of improved sequencing technology, that 1,000-piece puzzle became a 100-piece puzzle.

"Now that we have this 100% complete sequence of the Y chromosome, we can identify and explore numerous genetic variations that could be impacting human traits and diseases in a way that we could not do before," said Dylan Taylor, one of the geneticists who authored the study. .

The study was led by the Telomere-to-Telomere Consortium , the same scientific team that achieved the human genome feat in 2022. The result will complement their model. The researchers are funded by the National Human Genome Research Institute, a suborganization of the American National Institutes of Health.