Scientists have deciphered the genome of the human sex cell
Last reviewed: 23.04.2024
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The genome of the human germ cell has been decoded for the first time. A successful completion of the process of decoding the complete genome of the spermatozoa lasting almost a decade was announced by a group of scientists from Stanford University. The results of their work were published on July 20 in the journal Cell.
According to ScienceNews, 91 male gametes have been isolated from the semen by the head of the group, Stephen Quake, a professor of bioengineering and applied physics at Stanford University. In the course of the work, a comparative analysis of the genomes of each of the genomic and preliminarily fully decoded genome of somatic cells of Quake was carried out, which allowed to take a fresh look at the mechanisms of mutation and recombination of genes, two basic processes that result in the formation of an individual human genome.
In previous studies, it was found that the process of gene recombination (the exchange of parental genetic material in the reproduction process) is controlled by the PRDM9 protein, which attaches itself to the DNA helix at the points of possible exchange. However, the Quake group found that often the recombination process takes place without the participation of PRDM9, inside the transposons (jumping genes) - mobile DNA sections that can move within the genome - where there is no place to attach this protein. These data, according to Quake, suggest that transposons are more important in the evolution process than previously thought.
Based on the information obtained during the parallel decoding of the genome of each spermatozoon, Quake and his team compiled a personal recombination map to evaluate the sequence, frequency and other characteristics of each episode of recombination and gene mutation. It was determined that each gamete is absolutely unique in the degree and frequency of mutations and gene recombinations, and this difference was somewhat more pronounced than expected.
"We used to have no way of registering all cases of mutation and recombination occurring in the sexual cells of an individual," Co-author of Quake, Professor Barry Behr, director of the Laboratory for In Vitro Fertility (IVF) at Stanford University, commented on the results in an interview with FoxNews.com university. "" Now we have a clearer idea of these processes, which makes it possible to compile an individual genetic map and track the changes that occur over time. " The results, Ber stressed, are very important for studying the causes of infertility in men. "Individual genetic maps will help us finally understand what is the fundamental difference between" good "sperm and" bad "sperm," Ber noted.
He stressed that the data obtained, especially concerning the level of mutations in male gametes, provide an opportunity to take a fresh look at the problem of male infertility. "I am ready to bet that a link between the number and type of mutations in spermatozoa and male fertility will soon be proved," said Behr.- All this in itself makes a huge contribution to understanding the causes of male infertility, of which there is much less known than about causes of female infertility. "
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