(ORDO NEWS) — Science magazine reported on the completion of the decoding of the complete human genome.
Scientists have completely completed the mapping of the human genome, in which there are no unexplored DNA sections. This is reported in an article published in the journal Science.
Two decades ago, scientists announced the end of the Human Genome Project, revealing the DNA sequences of most of the protein-coding genes. However, eight percent of the human genome, referred to as junk DNA, remained unsequenced.
In the new work, the researchers showed that this non-coding DNA actually plays a major role in many cellular functions and may be involved in the appearance of cancer cells.
The remaining eight percent of the genome belongs to heterochromatin that part of the chromosome substance that is in a dense (condensed) state.
Heterochromatin DNA is almost not transcribed, that is, it does not participate in the synthesis of RNA molecules and does not produce protein.
On the contrary, euchromatic regions of the genome contain more active genes, so they were a priority for researchers. They are also easier to assemble into a whole genome because they contain few repeating sequences.
To reconstruct the whole genome, the scientists used new methods that were developed about a decade ago to obtain longer sequences.
One tool is the Merfin program, which checks sequence accuracy by identifying nucleotides that may be out of place in a DNA sequence and automatically corrects errors.
It is only used for complex cases, such as in sequences where there are many identical base pairs.
The authors of the paper hope that their work will provide information for studies of diseases associated with the heterochromatic genome, the main of which is cancer associated with centromeric anomalies.
Cancer cells divide non-stop when certain regions of the centromeres (the center of chromosomes) are overactive, and a complete understanding of the genome in these regions could help develop new treatments.
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