by Karina Zolotareva | Irina Chadaeva | Bato Khandaev | Anton Bogomolov | Dmitry Oshchepkov | Maria
Nazarenko | Mikhail Ponomarenko | Nikolay Kolchanov | Institute of Cytology and Genetics, SB RAS,
Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of
Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS,
Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia | Institute of
Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russia | Institute of Cytology and
Genetics, SB RAS, Novosibirsk, Russia | Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia
Motivation and Aim: Cardiomyopathy is the most common cause of spontaneous death in
chimpanzees, who is our nearest wild congeners [1].
Methods and Algorithms: Using our previously published Web service
SNP_TATA_Comparator, we analyzed single-nucleotide polymorphisms (SNPs) within 70 bp
proximal promoters of eight human sarcomeric protein genes, as shown in Figure.
Results: After analyzing 637 such SNPs, we identified 92 and 54 candidate SNP markers for
worsened and relieved, respectively, hypertrophic cardiomyopathy (HC), as susceptibility to
heart failure. Among them, 84 and 62 candidate SNP markers overexpressing and
underexpressing, respectively, these genes as natural selection against the human
sarcomeric protein deficit, being resistance to heart failure. This simultaneity of
susceptibility and resistance to heart failure means disruptive natural selection of the
considered human genes as if humans could exposed self-domestication that is debatable.
We tested this using public 5591 differentially expressed gene (DEGs) of domestic versus
wild animals. In the domestic animals, the overexpressed sarcomeric protein DEGs
dominated the underexpressed ones (29 vs 15, respectively) just as natural selection against
the human sarcomeric protein deficiency. Amounts of the domestic animal DEGs
corresponding to relieved HC condition in humans surpassed those in wild animals (8 vs 1).
Conclusion: Thus, natural selection against the sarcomeric proteins deficit reduces the risks of cardiomyopathy in humans versus chimpanzees as the nearest wild congeners, for whom
it is the most common cause of spontaneous death.
Acknowledgements: We thank the Multi-Access Center “Bioinformatics” for the use of
computational resources supported by Russian government project FWNR-2022-0020.