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Index – Tech-Science – Complete human gene map complete

The Human Genome Project was launched in 1990 and in 2004 it was announced that the human genome map had been completed. At the time, due to technical limitations, about 8 percent of all DNA was missing. The gravity of the difficulties is shown by the fact that, despite the troubled technology, it took almost two decades to explore the missing part. MIT professor Jonathan Wiseman and his colleagues went further and announced in the Cell Column that a functional genetic map had been created.

DNA is the chemical information encoded in the double helix found in the nucleus of every human cell. The line of code itself is aggregate information, but if we know that a part contains instructions for building a particular protein, it is called a gene. If the DNA map is a blueprint for a house, then Weismann and colleagues’ genetic map shows that the line is a wall, a door, or a metal spiral staircase. Therefore, understanding all genetic functions is a major scientific advance.

The scientists used the Perturb-seq method to create a genetic map. A gene-editing system uses CRISPR to turn on and off certain genes. Genes can be identified by screening the forward RNA that transcribes the DNA instructions. The procedure, published in 2016, was developed by Weissmann himself with his colleague Professor Aviv Regev. Joseph Replogl, a student in Weissman’s lab, developed the procedure, making it more widely applicable. The new Petrurb-seqet was published in 2020 by Replogle.

A comparative analysis of healthy retinal-derived hematopoietic cells was performed on 2.5 million cells, providing a comprehensive map of genotypes and phenotypic association.

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A major benefit of the study is its ability to identify genes whose function is currently unknown. An example is the C7orf26 mutation, which has been shown to be responsible for the fifteenth component of the molecular structure of fourteen different proteins called the integration complex that produces RNA segments. The research also revealed that the proteins that make up the catalyst are not just components but several separate units.

The researchers found a group of genes whose deletion from one cell to another led to a different result. These genes have been shown to play a role in chromosome segregation. Chromosomes store strands of DNA, and a genetic defect that contains missing chromosomes is called aneuploidy. According to Weissman, the discovery of the genes responsible for aneuploidy is one of the most interesting results of the mapping of genes to date, because on the contrary, they have learned in practice the correct way of dividing DNA into chromosomes.

The work also looked at how mitochondria respond to stress. Mitochondria are special cellular organs responsible for supplying cells with energy and storing energy, which entered cells as living bacteria in symbiosis. In the human genome, about a thousand genes are associated with mitochondria, but mitochondria also have their own genome containing 13 genes.

The research found that genes in the cell also came into play under stress, but the mitochondria showed a different, more energetic response.

The question remains why mitochondria have their own DNA. The big picture shows that the advantage of the free-standing mitochondrial genome is that the cell can respond locally and specifically to various stresses.

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Scientists will continue to work on examining the types of cells other than the cancer cells used and further explore the map.