Scientists have just discovered the complete human genome. And while the discovery may seem small, it can lead us to understand some medical genetic conditions in a better light.
In 2003, scientists believed they had achieved the complete sequence of a human genome. However, that belief was false because they had neglected about 8% of the genome, especially near the centromere area.
Now, some 20 years later, a new and more complete human genome has been discovered by scientists. The latest information gives humanity a clue into how humans evolved and changed. But the bigger win is we now have new tech that can process the complete human genome sequence download.
A long road to discovery
This new breakthrough has been no easy task like many great biological stories. The big challenge was dealing with a large amount of data that needed to align. In fact, to find a truly complete human genome, scientists would have had to sequence big chunks of highly repetitive DNA that is hard to align with the rest.
Now, scientists have found the first completed genome, and they named it T2T-CHMI3. Scientists worldwide use the GRCh38 sequence as a reference genome to find different genetic varieties. However, the new upgrade through a fully complete human genome offers a more detailed look at how a genome works.
The new genome gives a closer look at a region near the centromere. Here, chromosomes are pulled apart in this area to ensure that every daughter cell gets the correct number of chromosomes.
Getting a closer look at this area leads scientists and physicians to a better outlook on how some human ancestors evolved in Africa.
The faces behind the work
Like any great find, the success of finding the complete human genome wasn’t the work of only one great mind but many.
In fact, it took over 100 scientists to create the gapless genome perfectly. Known as the Telomere to Telomere Consortium, the team looked at 22 autosomes and the X sex chromosome. Their research revealed billions of base pairs and almost 20,000 protein-coding genes. Aside from these, the team also found 2 million variants of the genome, of which over 600 occur in medically relevant genes. The group’s name comes from the word telomere. It is the cap at the end of all chromosomes.
Adam Philippy, one of the team’s senior researchers, said that this could lead doctors to assess all the variants in a person’s DNA. Down the line, this can give a “better guide to their health care.”
A guide to their process
The entire genome is composed of only four types of nucleotides. They code amino acids, which are used to build proteins, in groups of three. The team’s research mainly focuses on identifying areas where the proteins interact with the DNA.
Genome regulation heavily relies on the interactions between the protein and the genome. That is according to Nicolas Altemose, one of the principal authors of the complete human genome. If scientists can map out where some proteins bind in the genome, they can easily find the key to knowing the functions and importance of the genome.
Altemose and his researchers were most interested in finding the area where the kinetochore grips the chromosome. Having a nice grip on the chromosome helps the nucleus pull it apart.
When this process goes south, it is usually the cause of major genetic faults. This usually leads to misregulated chromosomes, which can result in cancer and other anomalies.
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