New Genes, 3,400 more than we know so far: The Book of Life is finally over, with its pages still blank, about 8% of the volume 20 years later, thanks to an unprecedented technological initiative, the map of the human genome has been completed, and the result is an online biorexive website that welcomes articles awaiting experimentation by the scientific community.
Numerous authors of research in the D2D (Telomere-to-Telomere) consortium open the door to unprecedented detail on individual chromosomes, with effects in many fields of biomedicine, from diagnosis to innovative therapies. At the moment, however, the most interesting element is about the technologies that have been able to achieve this result and which have proven to work efficiently.
The first author of the research was Sergei Nurk, a computational geneticist at the American National Institutes of Health (NIH) and the University of California at Santa Cruz, Washington in Seattle and the National Institute of Human Genetic Research in Maryland. .
The new human DNA map now has 3.9 billion basic pairs, compared to 3.2 billion in the first order obtained 20 years ago by the International Federation for Human Genetic sequencing and the small Celera company run by Craig Vander. .
Unlike the map obtained 20 years ago, what is now known is not derived from a person’s DNA, but from an abnormal pregnancy, i.e. from the development of an ossified uterus without a fetus (called a ‘molar pregnancy’ or ‘hydatiform mole’), which is normal Like human cells there were two copies of the same 23 chromosomes instead of two different chromosomes.
New DNA sequencing technologies developed in recent years have been able to complete the map. Thanks to these we were able to fill in the gaps and gaps that existed 20 years ago, which was about 8% genetically identical. “This study represents an important step from a technical point of view because, if confirmed, it demonstrates that chromosomes can be fully sequenced, from one intensity to another,” notes the director of Human Technopol. Ian Mattage. Technology found during the first map “does not allow the length of DNA to be repeated very often, they make up about 5% of the human genome. New data – Continued mutagen – derived from abnormal human cells that contain two identical sets of only 23 chromosomes, but now This is proof of a principle that complete gene sequences can be obtained.In addition to the very repetitive DNA sequence, it is thought to be involved in both genetic expression and evolution of the gene, research – Mattaz says – reveals 3,400 new protein-encoded genes, which are identified in the draft gene 4% more than seen “.
According to D2D consortium researchers, their results indicate “the greatest progress in the knowledge of the human genome since the first map was published.” The number of sites, i.e., the amount of words written in the book of the human genome, has increased by 4.5% and the genes that control the production of proteins are now 0.4% higher: Although this is new to the authors of the research, ignorance may be sufficient to understand the more unknown aspects of the human genome, for example the mode of genetic control.