About 15% of the 20,000 genes that the map of the human genome has is crucial, essential for life; These genes are more important than even the minor mutations that can kill us before we are born. This is determined by the latest study led by geneticist Daniel MacArthur, from the Massachusetts Institute of Technology and Harvard University in Cambridge, Massachusetts (USA). The study, which has not yet been officially published, is reported in the journal Science .
This finding will have important implications in the understanding of the genetic basis of diseases , since it will help to better locate all those genes involved or that cause diseases in humans.
The researchers compared the part of the genome known as the exome – parts of the genes that will be part of mature messenger RNA – in 60,000 people, a sample 10 times larger than previous studies. This macro-analysis was possible thanks to the joint collaboration of several teams of researchers who discovered 10 million variants. Thus, comparing the number of variants found in each of the genes, they saw that the slightest variation of exactly 3,230 genes could lead to a malfunction of the organism, making life impossible.
“Genes that are shown without variants must be essential or play important biological functions,” says Xu Ping, a molecular microbiologist at Virginia Commonwealth University.
These several thousand genes are associated with critical cellular operations such as the construction of cell proteins. However, according to experts, these 3,230 genes would not make up the complete set of essential or essential genes in the human body since it will be necessary to study more exomes to further adjust this figure.
