Research Laboratory «‎Regulatory Genomics»

Scientific results:

1. We have collected material and created a biobank of samples of muscle tissues of crab-eating macaque and humans. We isolated RNA and prepared CAGE-seq libraries and performed their sequencing. Profiles of the differential expression of genes in various types of muscles have been obtained.
2. Under the supervision of employees of the Laboratory (Vsevolod Yu. Makeyev and Ivan V. Kulakovskiy), the ANANASTRA web service has been developed that allows to annotate sets of individual single-nucleotide variants, for instance, the most reliable results of full-genome research of associations, information on allele-specific binding of human transcription factors. The web service is integrated with external databases on genotype−molecular genotype associations, primarily GTEx, which will allow researchers to reliably determine key regulatory variants affecting the activity of genes.
3. We have analyzed the expression profile of regulatory elements of the genome in various sections of the human heart muscle in the norm and in cardiac pathology. We determined over 3 000 new RNA transcription initiation sites. It was reliably demonstrated that mutations in the regulatory elements of the genome lead to changes in RNA transcription in cardiovascular system diseases. We found a number of examples when the alternative use of transcription initiation sites leads to the emergence of protein isoforms specific to diseases, which can be a potential target for the development of new therapeutic approaches.

Implementation of research results:

On the basis of data on the work of genes in the heart muscle accumulated by the Laboratory, a digital genetic portal has been created to analyze information on the activity of the regulatory elements of the genome in various sections of the heart. The database allows to conduct in silico survey and analysis of the activity of the regulatory elements of the genome in the interactive mode, to analyze the differential activity of genes and RNA transcription initiation sites.

Education and career development:

Employees of the Laboratory completed internships in Japan.

Diploma works have been defended in the domain of the project.

Collaborations:

The Laboratory collaborates with Juntendo University (Japan) and Northwestern University (USA).

Among Russian organizations our partner is the Moscow Institute of Physics and Technology, we are maintaining close academic connections with the Institute of Biomedical Problems of the Russian Academy of Sciences.