Why the need for a comprehensive atlas of human genetic – Nord News Agency

16:15
08.05.15

Understand why people have a susceptibility to various diseases, and to clarify mechanisms of genetic variation will help the complex human genetic atlas. Participation in drawing takes and a researcher at the Moscow State University.

The researchers involved in the project GTEx Project (The Genotype-Tissue Expression Project), in which they are engaged in the creation of complex gene expression atlas of the human, We published the first results of their research in one of the most prestigious scientific journal Science.

The data will help to better understand the mechanisms of genetic variation, and as a result, and the susceptibility of people to disease.

The three articles of Representatives GTEx Project, which was the result of two years of work, describes how genetic variants control how and when “turned on” and “off” genes in different tissues, as well as how they predispose people cancer, diabetes and cardiovascular disease. Among the authors and Assistant Professor, Department of Bioengineering and Bioinformatics Pervushin Dmitri, who also works at the Center for the regulation of the genome and the University Pompeu Fabra in Barcelona. His role in this project was to find and characterize mikroekzonov – short fragments of the genome is expressed predominantly in the brain.

In this article, one of the authors of which he is told about how gene expression varies depending on organs and fabrics. In particular, the researchers were able to establish that the genetic activity is characterized mainly in organs and tissues.

At the same time individuals, most genes are expressed in a similar way, but differences were observed only in 5% of cases, depending on the sex, age and ethnic origin.

For example, gender is due to the work of more than 750 genes, most of which are associated with breast cancer. At the same time differences in the genetic expression of Africans and Europeans associated with the skin. In addition, the researchers looked at about 2 thousand. Genes, the presence or absence of which is due to age.

Overall, they represent about 10% of all human genes. Among them there are genes that are associated with neurodegenerative diseases such as Alzheimer’s and Parkinson’s.

Finally, the researchers were able to establish that, even if in different organs and tissues of expression of the same gene occurs in many ways, the number of genes that are expressed only in certain tissues and organs, quite a few.

The project itself GTEx – a unique phenomenon. It is expected that the project will be examined tissue samples from 900 people who before his death, agreed to become donors. The samples for research is taken about 30 fragments of tissues and organs. At the same time, scientists analyzed the genomic DNA and the expression, that is, the RNA.

Researchers believe that the more they study the samples, the more accurate gene expression atlas of the human will to create. For example, comparing the genetic variants of people with a particular disease with genetic variants of those who are not ill with the disease, scientists will be able to understand what caused these diseases and predisposition to them.

It is expected that during 2015 the number of donors to the project It will be equal to 1 thousand. people, and scientists will research about 20 thousand. tissue samples. Such scale of the project makes GTEx unique not only in research but also in logistics.