Spectrum and characteristics of missense substitutions in the genes for NADH dehydrogenase subunits in the mtDNA haplogroups prevailing in Northern Eurasia
https://doi.org/10.25557/2073-7998.2022.12.36-39
Abstract
Based on the analysis of mitochondrial DNA sequences deposited in databases, the spectrum of amino acid variability of the mtDNA-encoded subunits of the respiratory chain complex I was studied depending on mtDNA haplogroup affiliations. It was found that about 20% of amino acids were polymorphic in the studied dataset, and for 30% of polymorphic amino acids more than one mutational event (homoplasy) was registered. The effect of negative selection was revealed for some complex I genes in mtDNA haplogroups, distributed mainly in Northern Eurasia. It has been shown that the conservation index for amino acid substitutions in complex I genes is lower than in other mtDNA genes, and for the ND1 gene this index is higher than for other complex I genes. For the MutPred index and the mtDNA selection score, which reflect the effect of amino acid substitution on the structure and function of the protein, higher average values were registered in the “Northern” mtDNA haplogroups, comparing to the “Southern” haplogroups.
About the Authors
M. V. Golubenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
N. P. Babushkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
N. V. Tarasenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
R. R. Salakhov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
M. S. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
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Review
For citations:
Golubenko M.V., Zarubin A.A., Babushkina N.P., Tarasenko N.V., Salakhov R.R., Nazarenko M.S. Spectrum and characteristics of missense substitutions in the genes for NADH dehydrogenase subunits in the mtDNA haplogroups prevailing in Northern Eurasia. Medical Genetics. 2022;21(12):36-39. (In Russ.) https://doi.org/10.25557/2073-7998.2022.12.36-39
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