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Research Laboratory «‎Regulatory Genomics»

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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

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.

Ruslan M. Deviatiiarov, Anna Gams2, Roman Syunyaev, Ivan V. Kulakovskiy, Andrey Buyan, Georgy Meshcheryakov, Roman Syunyaev, Ramesh Singh, Palak Shah, Tatiana V. Tatarinova, Oleg Gusev*, Igor R. Efimov
An atlas of transcribed human cardiac promoters and enhancers reveals an important role of regulatory elements in heart failure. Nature Cardiovascular Research (в печати)
Alexander Boytsov, Sergey Abramov, Ariuna Z Aiusheeva, Alexandra M Kasianova, Eugene Baulin, Ivan A Kuznetsov, Yurii S Aulchenko, Semyon Kolmykov, Ivan Yevshin, Fedor Kolpakov, Ilya E Vorontsov, Vsevolod J Makeev, Ivan V Kulakovskiy
ANANASTRA: annotation and enrichment analysis of allele-specific transcription factor binding at SNPs, Nucleic Acids Research, Volume 50, Issue W1, 5 July 2022, Pages W51–W56, https://doi.org/10.1093/nar/gkac262
Ananeva, A, Gulnaz, A, Ryzhkova, T, Gaifullina, R, Shagimardanova, E.
The novel HLA-A*11:416 allele was identified during high-resolution HLA typing. HLA. 2022; 1- 2. doi:10.1111/tan.14866
Ananeva, A, Elvira, Z, Ryzhkova, T, Shagimardanova, E.
The identification of three novel HLA-A alleles: HLA-A*03:390:02, -A*26:112:02 and -A*26:221. HLA. 2022; 1- 2. doi:10.1111/tan.14864
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