These repetitive blocks of DNA may play a role in human disease, even distinguish humans from other species.
By
AHMAD ARIF
·4 minutes read
AP /MARKUS SCHREIBER
French microbiologist Emmanuelle Charpentier poses near a statue of Max Planck in Berlin, Germany, Wednesday, Oct. 7, 2020. French scientist Emmanuelle Charpentier and American Jennifer A. Doudna have won the Nobel Prize 2020 in chemistry for developing a method of genome editing likened to ‘molecular scissors’ that offer the promise of one day curing genetic diseases.
JAKARTA, KOMPAS — Scientists have succeeded in fully mapping and sequencing the human genome, nearly two decades after these efforts began. The newly sequenced human genome (all genetic information) will pave the way for better understanding the human blueprint and how genetic mutations contribute to disease.
In 2003, the scientists involved in the Human Genome Project first succeeded in sequencing a large part of the 3 billion codes contained in human DNA (deoxyribonucleic acid), or base pairs that carry human genetic information. At that time, there were still parts of the human genome that remained a mystery.
The Telomere to Telomere (T2T) consortium of scientists have been trying to solve this mystery in recent years. The consortium includes researchers from the United States’ National Human Genome Research Institute (NHGRI), one of the National Institutes of Health in Maryland, the University of California, and the University of Washington. They were able fill in the last 8 percent of the DNA sequence that were not clearly mapped in previous sequencing efforts. Their findings have been published in the journal Science, on Thursday (31/3/2022).
The paper provides more detailed information on 622 variants that appear in medically relevant genes.
In its paper, the T2T consortium describes how it used the now completed sequence to discover more than 2 million additional variants in the human genome. The paper provides more detailed information on 622 variants that appear in medically relevant genes.
The newly sequenced data includes previously unknown parts, such as the centromere, the central “processor” of chromosomes that determines human development and plays a role in brain growth and neurodegenerative diseases. Scientists also sequenced long strands of DNA containing repetitive sequences, which were initially thought to be copying errors and were hence dubbed “junk DNA”.
DOKUMENTASI IWAN SUMANTRI/ARKEOLOG UNHAS
Research atmosphere in the excavation pit in Liang Panninge (Bat Cave) conducted by archaeologists Oda in 2015. The excavations found a human skeleton with Dinosovan DNA.
These repetitive blocks of DNA may play a role in human disease, even distinguish humans from other species. The research team said that primates had a different number of these repetitive blocks than humans and that they appeared in different areas of the genome.
NHGRI director Eric Green said analyzing the complete genome sequence added to knowledge about chromosomes, including a more accurate map of five chromosome arms. It helped understand how chromosomes divided correctly.
"Generating a complete sequence of the [human] genome is a tremendous achievement, providing the first comprehensive view of the blueprint for human DNA," said Green. It reinforced ongoing efforts to understand all functions of the human genome.
T2T lead Adam Phillippy added that sequencing a person's entire genome had become more affordable and easier. “In the future, when someone has their genome sequenced, we will be able to identify all of the variants in their DNA and use that information to better guide their health care,” he said.
Implications
Geneticist Herawati Supolo Sudoyo, who also chairs the Medical Commission of the Indonesian Academy of Sciences, said on Monday (4/4) in Jakarta that the complete data on the human genome was very useful information for the Indonesia Genome Diversity Project, which she and her team were working on.
HUMAS LIPI
Geneticist Herawati Supolo Sudoyo.
"There are 220 WGS [whole genome sequences] that have been carried out in Indonesian population using previous information. With more genetic variation, this complete and accurate reference on the human genome is needed," said Herawati.
These insights are useful for understanding how genes contributed to certain diseases and for using genome sequencing as part of future clinical care.
Whole human genome sequencing helps build a comprehensive view of variations in the human genome and how human DNA differs. These insights are useful for understanding how genes contributed to certain diseases and for using genome sequencing as part of future clinical care.
Pradiptajati Kusuma, a postdoctoral researcher on population genetics at the Mochtar Riady Institute for Nanotechnology, said all genomic researchers were competing to remap their genomic data using references from the T2T study. "We will do that, too," he said. (AIK)
