August 4, 2020

The recipe for each human being to be unique


A team of scientists from the Icelandic company deCODE Genetics has published the first complete portrait of the human genome sequence, which allows us to see in detail how the two mechanisms responsible for making each individual of our species unique.

The specialized magazine "Science" published in its online edition a study on the genetic map prepared by deCODE Genetics, reports Efe.

The map contains details on the location, speed and connection between two key drivers of evolution and human diversity: recombination and de novo mutation.

Genetic recombination is the process by which a strand of genetic material is cut and then it joins a molecule of different genetic material.

As for the de novo mutation of a gene belonging to the chromosome of an individual, it is one that occurs unexpectedly without having been inherited from parents or grandparents, and It can lead to a disorder or genetic disease.

These two processes together ensure that no two humans are the same and de novo mutations are also the main cause of the rare diseases that appear in childhood.

The map prepared by deCODE It shows that recombination and de novo mutation "are linked," said Icelandic geneticist Kari Stefansson, CEO of the company and author of the study published in "Science."

"We show that de novo mutations are more than fifty times more likely at recombination sites than anywhere else in the genome," he said.

The complete portrait of the human genome achieved by deCODE is based on sequence data from some 150,000 Icelanders of many generations and provides the precise location of 4,5 crossing recombinations, as well as more than 200,000 de novo mutations.

The first genetic map of deCODE, published in 2002, It was essential to correctly assemble the first reference human genome.

"For the last twenty years we have been committed to the study and publication of de novo recombination and mutation, and their relevance to human evolution and disease," Stefansson said.

Based in Reykjavik, the capital of Iceland, deCODE Genetics is the world leader in analysis and understanding of the human genome, and is a subsidiary of US biotechnology company Amgen. EFE

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