The complete human gene map has been completed

In the early 2000s, technical barriers were the barrier to discovering the missing 8 percent of total DNA, but that’s the end of 2022: The new publication says all genetic functions have been identified, a major scientific achievement.

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The publication highlighted that DNA is the chemical information encoded by the double helix found in the nucleus of every human cell, that the line of code itself is the huge set of information, and if we know that a part contains instructions for building a particular protein, it is called a gene. More understandably, if we look at the DNA map as a map of a house, the genetic map of Wiseman and colleagues shows that the line is a wall, a door, or a metal spiral staircase.

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The scientists used the Perturb-seq method to create a genetic map, a procedure Weissman himself published in 2016 with a colleague of Professor Aviv Regev. The method uses the CRISPR gene-editing system to turn specific genes on and off. The researchers were able to identify the genes by examining the forward RNA that transcribed the DNA instructions. This procedure was developed by Joseph Ribogel, a student in Weizmann’s lab, and has become more widely applicable.

The analysis was performed on leukemia cells and healthy cells derived from the retina, numbering 2.5 million, to provide a comprehensive map of genotypes and phenotypic relationships.

New parts found

One of the study’s main benefits, the researchers say, is that it can be used to identify genes whose function is currently unknown. An example of this is the C7orf26 mutation, which was finally revealed to be “responsible for the fifteenth component of the molecular structure of fourteen different proteins called the integration complex that produces RNA fragments.” It was also revealed that the proteins that make up the catalyst should not be considered components only because they form several separate units.

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They also found a group of genes whose cell-to-cell deletion yielded different results: they were found to play a role in chromosome segregation. Chromosomes store strands of DNA, and experts call the genetic defect associated with missing chromosomes aneuploidy. Wiseman noted that the discovery of the genes responsible for aneuploidy is one of the most interesting genes in the gene map, because by reversing it, they have learned in practice the correct way of dividing DNA into chromosomes.

Is the cause of stress also being researched?

In their work, they also look at how mitochondria respond to stress. The latter cells are special cellular organs responsible for energy supply and storage, and according to our current knowledge, cells as living bacteria entered into a symbiosis. They wrote that in the human genome, about a thousand genes are associated with mitochondria, but mitochondria also have their own genome containing 13 genes.

The research eventually concluded that the genes in the cell also started to turn on due to stress, but the mitochondria produced a different, more diverse response.

However, the question remains why mitochondria have their own DNA. Based on the big picture, Weissmans believes that the advantage of a single mitochondrial genome is that the cell can respond locally and specifically to various stresses. Scientists will continue to work on studying the types of cells other than the cancer cells used, with further exploration of the map.

(SciTechDaily)