29 Apr , 14:47
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Scientific breakthrough: for the first time in history, the human genome has been completely decoded, including the mysterious Y chromosome
Scientists have made a real breakthrough in genetics, completely eliminating all "blank spots" in the human genome. Until recently, the Y chromosome remained the most mysterious area of human DNA, but now its structure has been revealed in all details.
Previous versions of the genome contained significant gaps, especially in segments responsible for male fertility. Some fragments were erroneously classified as bacterial, which seriously distorted the overall picture. Now these inaccuracies have been completely eliminated.
American scientists applied a whole arsenal of advanced technologies: long-read DNA methods, innovative approaches to sequencing, and complex analysis algorithms. Thanks to this, researchers were able to assemble a complete map of all 62.4 million base pairs of the Y chromosome and correct errors from previous studies.
During the work, 41 previously unknown protein-coding genes were discovered.
Scientists also conducted a comparative analysis of Y chromosomes from 43 men from around the world, including representatives from Africa. The results were truly surprising:
The size of the chromosome varied from 45 to almost 85 million base pairs.
In some DNA sections, an "inverted" sequence was found — the order was changed, but the functions of the genes were preserved.
The diversity discovered spans a colossal period — 183 thousand years of human evolution.
New knowledge about Y chromosome variations opens unprecedented opportunities for understanding human health, development, and evolutionary path. Despite chromosomes being studied for more than a century, the genome continues to surprise scientists — it was recently discovered that the mass of a chromosome is 20 times greater than previously assumed values.
Now that the human genome has been completely decoded, medicine and biology face exciting prospects for new discoveries and breakthroughs.