What is the human genome?

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The human genome is our genetic information taken as a whole. It comprises the 3.2 billion "little letters" that make up our DNA, from the 22,000 genes we have in our body to the mitochondrial DNA, through the regulatory regions of the expression of those genes to proteins, the effector biomolecules of our organism. Mitochondrial DNA, inherited from our mother, consists of 16,000 bases; it is small and circular, and contains the genetic information of the mitochondria, essential cellular organelles where the energy necessary for our organism to function properly is produced.

How the human genome is structured

The human genome is structured in 23 pairs of chromosomes.The ultra-condensed form of DNA. Thanks to the way in which the DNA is stored, each of the small human cells whose diameter is 6 * 10-6 meters is capable of holding the entire genome. Put this way it may not have much impact, but if we stretch the genome linearly, it would be equivalent to two meters in length.

Multiplying these two meters of DNA contained in each human cell by the average number of cells in a human being (approximately 10 trillion), it is estimated that our body contains a total of 20 trillion meters of DNA.Yes, as you read it. You have 20 trillion meters of genetic information inside you,which is equivalent to 600 round trips from the Earth to the Sun. Incredible, isn't it?

Genome Regions

The human genome is made up of different types of regions:

  • Coding regions (exome):They represent only 1% of the genome and are the ones that are expressed as proteins, the functional elements of our body.
  • Non-coding regions: They are those that regulate gene expression and are essential for proper cellular functioning in different parts of the body (skin, liver, etc.).

What is the Human Genome Project?

In 2001, a project called the Human Genome Project was launched, a scientific milestone that made it possible to sequence (know the information) of the human genome for the first time. The most striking aspect of this project is not “simply” the novelty and the advance in knowledge that allowed us to carry it out, but the fact that it took almost 10 years and 100 million dollars to undertake it. Today, thanks to scientific progress and new technologies, you can obtain the information of your complete genome for approximately 1000 euros, making it increasingly more affordable to have access to your genetic information and all the advantages that this entails. If you are interested in knowing all the information that your genome contains, click here.

Figure 1: Human Genome sequencing cost reduction.

Evolution of Genetic Sequencing

Although the Human Genome Project is the best known, it is not the only project that revolves around the Human Genome. The 1000 Genomes Project made it possible to obtain a database with individuals from different regions, allowing the study of genetic variability among human beings. We also want to highlight the ENCODE Project (acronym of ENCyclopedia Of DNA Elements), which made it possible to assign biochemical functions to 80% of the genome, also providing new knowledge on the organization and regulation of genes and the genome, knowledge that plays a key role in the study of human biology and diseases.

Impact on Medicine and Science

Knowledge of the human genome has revolutionized medicine and biology. Massive next-generation sequencing (NGS) has enabled significant advances in genomic medicine, offering new possibilities for the diagnosis, treatment and prevention of diseases.

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