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Invited researcher Yoshihide Hayashizaki
Time span of the project
General information

Name of the project: Regulatory genetic and epigenetic mechanisms of the development and the functioning of skeletal muscles and the heart muscle of humans and primates in the norm and pathology

Strategy for Scientific and Technological Development Priority Level: в
Goals and objectives

The main objective of this research is the determination of the activity landscape of regulatory elements of the genome in the adult and developing heart muscles of humans and primates in the norm and pathology. To achieve this goal, it will be necessary to collect samples of various types of skeletal and heart muscles of humans and mammals (macaques). The organisation of a biological bank of muscle samples will be one of the important tasks. Using modern methods of the assessment of the activity of genes at the level of the whole genome (CAGE-seq RNA-seq) and their regulatory elements (ATAC-seq), as well as their variations at the level of single cells, we will be solving the problem of the collection of an array of sequencing data. The obtained data will be processed by a group of bioinformaticians possessing the experience of completion of major international projects, as well as using the FANTOM project series (2000-2018) that was based on the same technological platform (CAGE-seq), for the comparison of the results.

As a result, we are planning to create an atlas of expression activity, a reconstruction of gene networks that regulate molecular processes in muscle cells and tissues in the norm and pathology.

The practical value of the study
Projected research results: 

As a result of the implementation of the project, we are expecting to create a biological bank of human muscle samples in the norm and pathology with the support from the existing clinical information.

We will create a database available to the global scientific community via a web-interface and will systematise all the obtained data.

The laboratory will determine new regulatory elements (promoters and enhancers) and recover regulatory networks that are specific to particular types of muscles.

We will identify the age- and pathology-dependent changes in the activity of regulatory elements, as well as significantly broaden the knowledge of the relation between mutations in regulatory elements and pathologies of the skeletal and heart muscles.

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