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Scientists have decoded the genome of the human germ cell
Last reviewed: 01.07.2025
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The genome of a human reproductive cell has been decoded for the first time. A group of scientists from Stanford University announced the successful completion of the nearly decade-long process of decoding the entire genome of a spermatozoon. The results of their work were published on July 20 in the journal Cell.
According to ScienceNews, the 91 male gametes that became the object of the study were isolated from the seminal fluid of the group's leader, Stanford University professor of bioengineering and applied physics Stephen Quake. During the work, a comparative analysis of the genomes of each of the sex cells and the previously fully decoded genome of Quake's somatic cells was conducted, which allowed a new look at the mechanisms of gene mutation and recombination - two basic processes that result in an individual human genome.
Previous studies had shown that gene recombination (the exchange of parental genetic material during reproduction) is driven by a protein called PRDM9, which attaches to the DNA strand at points where exchanges can occur. However, Quake's team found that recombination often occurs without PRDM9, within transposons (jumping genes) - mobile pieces of DNA that can move around the genome - where there is no place for the protein to attach. These findings, Quake says, suggest that transposons are more important to evolution than previously thought.
Using the information obtained from the parallel sequencing of each sperm genome, Quake and his team created a personal recombination map that allows them to assess the sequence, frequency, and other characteristics of each recombination and gene mutation event. They found that each gamete is completely unique in the degree and frequency of gene mutation and recombination events, and this variation was somewhat more pronounced than expected.
"Previously, we had no way of registering all the mutations and recombinations that occur in an individual's germ cells," Quake's co-author, Professor Barry Behr, director of the in vitro fertilization (IVF) lab at Stanford University, told FoxNews.com. "Now we have a clearer picture of these processes, which allows us to create an individual genetic map and track changes over time." The results, Behr emphasized, are very important for studying the causes of infertility in men. "Individual genetic maps will help us finally understand what fundamentally distinguishes 'good' sperm from 'bad' sperm," Behr noted.
He stressed that the findings, particularly those concerning the mutation rate in male gametes, provide a new perspective on male infertility. "I would be willing to bet that a link between the number and type of mutations in sperm and male fertility will soon be proven," Behr said. "This in itself makes a huge contribution to understanding the causes of male infertility, which are much less well known than the causes of female infertility."
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