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The first complete sequencing of the human genome. Expert in breakthrough discovery by scientists

The first complete sequencing of the human genome.  Expert in breakthrough discovery by scientists

We are dealing with a very important discovery that tremendously advances our knowledge. We’ve got a classic picture that we’ll use to build our genetic puzzle. Professor Büyi Gulick, Director of the Institute of Genetics and Biotechnology at the University of Warsaw, said of the huge achievement of scientists who described the first complete sequence of the human genome, there are no longer gaps, gaps and white spots in it. As the specialist added, “We will be able to think of a possible treatment, and to predict the disease.”

In the early days of April 2022, an international group of scientists from the telomere-to-telomere union (T2T) presented the first complete sequencing of the human genome. This is a groundbreaking achievement, because even 20 years ago, the Great Human Genome Project revealed the vast majority of human DNA sequences – 92 percent, and 8 percent remained a mystery.

As Professor Bauwe Gulick, a geneticist, director of the Institute of Genetics and Biotechnology at the University of Warsaw, said, the project did not reveal “genes whose counterparts we would not know beforehand, anything innovative.” – Although, from a cognitive point of view, but also from a practical point of view, it is a very important discovery for human genomics. Stressed for many reasons.

– First of all, the methods of studying the genome so far have focused on the read sequence, that is, the arrangement of the nucleotides in the DNA molecule, in rather short fragments. Subsequently, attempts were made to “assemble” entire genomes together. On the other hand, what has hitherto been neglected and insufficiently understood is the fact that in the genomes of multicellular organisms, including humans, a very large number of regions consist of many of the same (or similar) repeats of some loops. The geneticist said that current methods of genome research did not allow the study of these repetitive fragments.

As he explained, “If we break something into small pieces and then want to put them together, it turns out that such a small piece may fit in different places, and it can be repeated in many copies.” – We do not know at first the number of these copies or how they are arranged. Computational algorithms, which until now consisted of readable genetic sequences, have not been fully capable of handling such duplications. As a result, the genome announced 20 years ago had many gaps. Only where the repetitive sequences occur – the expert indicated.

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“It is only now that we fully understand these regions of the genome.”

What role do such sequences play in the human genome? They are “characterized, for example, by regions of chromosomes called centromeres,” Professor Gulick said.

“These are the parts that chromosomes need to divide evenly into daughter cells during cell division,” he explained. It is a characteristic constriction, which is where the two arms of the chromosome connect. – This is where the fibers of the cytoskeleton involved in cell division adhere, rupture, and the chromosome divides into the resulting daughter cells – explained the director of the Institute of Genetics and Biotechnology of the University of Warsaw.

– and only now we fully know these regions of the genome. Thanks to this, we will be able to better study exactly how the process of cell division works. This, in turn, could be important for understanding some genetic disorders, in which there are disorders caused by unequal chromosomal spacing. Often these are very serious defects that occur at the stage of gamete formation and are associated with an abnormal number of chromosomes. But such phenomena also occur in cancer cells. And this will also be an aspect that we will finally be able to examine – explained the professor. This, he added, is why “this genome, which has now been obtained, is complete without gaps”.

An amazing discovery by scientists in the field of geneticsstock struggle

Another very important thing is that the previous model sequence of the human genome was a kind of complex – created based on different cells from different people. Thus, it did not represent any particular genotype for any particular human being. This time it is one specific genetic type. Perhaps not from a person, because it comes from an acinar mole – a creature that arises when fertilization and embryonic development go wrong, but it’s an entire human genome – the professor noted. jolick

When asked why it took so many years to describe the last eight percent of the DNA sequences, he replied that “only in the past decade have technologies appeared that allow DNA to be sequenced not only in the small fragments we talked about before, but also for much longer than them.” “This allowed us to discover regions made up of many repeat parts of DNA,” he added.

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a. Lake: We will be able to better recreate the history of our species

The director of the Institute of Genetics and Biotechnology of the University of Warsaw announced that a consortium has been created, the next stage of the T2T project, which will “study the complete genomes of completely different people.”

what does that mean? – We will get complete sequences of representatives of different populations and ethnic groups living in different regions of our planet. This is very important, because although we already have very extensive databases of genetic diversity on Earth, including fossil DNA samples from tens of thousands of years ago, the element that has eluded us so far is the variation within these exact repeat regions. It also plays a very important role in evolution. With these new tools, he said, we will be able to better recreate the history of our species.

Professor Gulick said that people differ from one another in parts of their repetitive DNA. We know that there is a great difference between us in terms of frequency and their number. So far, these have been areas of our inaccessibility. Now that we have a complete pattern and techniques to study it, we can learn about human genetic diversity in its entirety — he explained. He also added, “I am convinced that only in these next stages of the human genome project will the amazing discoveries emerge.”

“It almost doesn’t look like this.”

Research can also give us answers to questions about diseases and human characteristics, which – as the specialist said – “make each of us different.” This is made up of a combination of genes and environmental factors, about half of which are. In addition, it is complicated by the fact that in the vast majority of cases, genes do not work because one gene determines one trait. Many people have trouble understanding, because at school we learn genetics on a very simple Mendelian genetic model, where, for example, we have a trait like the color of pea flowers and a single gene whose variants determine whether these flowers are white or red – explained.

“Unfortunately, we pass on genes understood in this way to humans, so it seems to us that there must be a single gene that determines, for example, our intellectual and athletic talents or the tendency to develop diabetes and heart disease,” he added. Meanwhile, it never seems to be the case. Yes, there are monogenetic traits in humans, but there are relatively few of them. For example, it is associated with very rare genetic diseases such as cystic fibrosis and Duchenne muscular dystrophy. All our remaining features are the result of the actions of many genes – the professor noted. Gulik. He gave the growth trait as an example. “We know that it is influenced by at least a thousand different genes and in combination with environmental factors,” he said.

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Scientists made the complete human genomestock struggle

Specialist: We are dealing with a very important discovery that dramatically advances our knowledge

According to the professor. Gulick, “In the coming years, there will be a series of publications in which new genetic factors responsible for various human characteristics, resulting from changes in the number of repeat fragments, will be revealed.” – When we examine, for example, the genome of a representative of an ethnic group for a prehistoric study, or when we examine a sick person to compare it with the genome of people who do not have this disease, we first need to find out how a particular person differs from this approved pattern – he said. Compare them to the order of the puzzle. – It is easier for us to arrange them when the box contains a picture that shows the end result. Then we compare our pieces to this picture and put them in the right places. The same is true of the case we are talking about. He said that when we don’t have a pattern, that reference sequence, it’s as if we want to make a puzzle without a picture.

He noted that thanks to the discovery of the entire sequence of the human genome, “we just got this classic picture that we’re going to use to solve the genetic puzzle.” – There are no more gaps, gaps and white spots in it. Therefore, we can better and easier to understand human genetic variation, and only when we fully understand it will we be able to think about possible treatment, prediction of diseases, etc. These are things that look much further into the future. So we are dealing with a very important discovery that tremendously advances our knowledge, but we are not counting on the fact that its applications will appear in pharmacies in a year or five – said the geneticist.

Main image source: stock struggle

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