Scientists first "read" the structure of the female chromosome

American geneticists were able to fully decipher the human X chromosome. They were able to do so using new DNA sequencing technology based on nanopores and a special line of cells. This achievement opens a direct path to the full decoding of the entire human genome, which scientists intend to complete by the end of 2020. Knowing how chromosomes or the entire genome are arranged will allow specialists to cure many diseases. The article is published in Nature magazine.

Human DNA consists of about six billion "letters" - nucleotides (A - adenine, C - cytosine, T - thymine, G - guanine). Its first decoding was done in 2003 as part of the Human Genome Project. However, this set is far from complete, as many details then eluded the attention of scientists: for example, they were unable to establish the structure, length, and role of many repeating sites of DNA.

This issue has now been solved by using a new DNA sequencing technology that uses nanopores and cell lines from a bubble pump, a defective embryo formed as a result of chromosome-free fertilization of an egg. Such embryos are non-viable and of great interest to geneticists because there is no difference in their genome between a father and a mother of a future child.

From these cells, experts have extracted DNA fragments and focused on finding all sites in the female X chromosome. They chose it since the mutations in it are associated with various diseases such as hemophilia, muscle dystrophy, X-chromosome withdrawal syndrome, etc.

Scientists managed to count each of its nucleotides with an accuracy of 99.995%, after which they created a virtual copy of the X-chromosome - there is not a single obscure area or space in it.

In particular, they read for the first time how telomeres - the end parts of chromosomes that play a critical role in cell reproduction and the aging process - are arranged, as well as centromeres - nucleotides in the central part of the chromosome, at the intersection of DNA threads. This will help to learn deeply loads of diseases due to genetic characteristics.

July 16, 2020, 10:38 a.m.

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