Mitogenomic diversity in Russians and Poles

Malyarchuk, B. A.; Литвинов, А. Н.; Derenko, Miroslava; Skonieczna, Katarzyna; Grzybowski, Tomasz; Grosheva, A. N.; Shneider, Yuri; Rychkov, Sergei; Жукова, О. В.

doi:10.1016/j.fsigen.2017.06.003

Cited by 20 publications

(20 citation statements)

References 40 publications

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“…Изучена изменчивость целых митохондриальных геномов у современного русского населения Восточной Европы (Malyarchuk et al, 2017) в сравнении с распределением гаплогрупп мтДНК у древнего населения Европы и Кавказа эпохи неолита и бронзового века (Allentoft et al, 2015;Haak et al, 2015;Mathieson et al, 2018;Wang et al, 2019). Использованы также сведения из базы данных AmtDB (https://amtdb.org), в которой собраны древние нуклеотидные последовательности мтДНК с сопутствующими данными (идентификаторы образцов, археологических сайтов, культур, гаплогруппы мтДНК и т.…”

Section: материалы и методыunclassified

“…лет до н. э. До этого времени древнее население характеризуется в основном митохондриальными гаплогруппами U2e, U4a, U4b, U4d, U5a1, U5a2, U5b2, а позже появляются гаплотипы, относящиеся к гаплогруппам H, HV, J, T, W3, W6 и др. : менчивости мтДНК современного русского населения (Malyarchuk et al, 2017), наблюдается рост эффективной численности популяций.…”

Section: результатыunclassified

“…Тем не менее изучение больших выборок митогеномов (более 250 человек на выборку) позволило, подобно исследованиям Y-хромосомы, установить рост эффективной численности населения Восточной Европы в эпоху бронзового века (Malyarchuk et al, 2017;Översti et al, 2017). Байесовский анализ изменчивости целых митогеномов 376 русских индивидуумов показал, что в Восточной Европе имел место резкий рост эффективной численности популяций ~4.3 тыс.…”

Section: Introductionunclassified

“…лет тому назад (95 % доверительный интервал 2.9-5.8 тыс. лет) (Malyarchuk et al, 2017). Это свидетельствует, что экспансия населения Восточной Европы, ставшего основой для русских популяций, началась в бронзовом веке.…”

Section: Introductionunclassified

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Sources of the mitochondrial gene pool of Russians by the results of analysis of modern and paleogenomic data

Malyarchuk

2019

Vestn. VOGiS

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Paleogenomic studies of recent years have shown that the Bronze Age migrations of populations of the PontoCaspian steppes from the east to the west of Europe had a great influence on the formation of the genetic makeup of modern Europeans. The results of studies of the variability of mitochondrial genomes in the modern Russian populations of Eastern Europe also made it possible to identify an increase in the effective population size during the Bronze Age, which, apparently, could be related to the migration processes of this time. This paper presents the results of analysis of data on the variability of entire mitochondrial genomes in the modern Russian populations in comparison with the distribution of mtDNA haplogroups in the ancient populations of Europe and the Caucasus of the Neolithic and Bronze Age. It was shown that the formation of the modern appearance of the Russian mitochondrial gene pool began approximately 4 thousand years B.C. due to the influx of mtDNA haplotypes characteristic of the population of Central and Western Europe to the east of Europe. It is assumed that the migrations of the ancient populations of the Ponto-Caspian steppes in the western direction led to the formation of mixed populations in Central Europe, bearing mitochondrial haplogroups H, J, T, K, W characteristic of Western and Central Europeans. Further expansion of these populations to the east of Europe and further to Asia explains the emergence of new features of the mitochondrial gene pool in Eastern Europeans. The results of a phylogeographic analysis are also presented, showing that the features of the geographical distribution of the subgroups of the mitochondrial haplogroup R1a in Europe are a reflection of the “Caucasian” component that appeared in the gene pools of various groups of Europeans during the migration of the Bronze Age. The results of phylogeographic analysis of mitochondrial haplogroups U2e2a1d, U4d2, N1a1a1a1, H2b, and H8b1 testify to the migrations of ancient Eastern Europeans to Asia – the south of Siberia and the Indian subcontinent.

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Section: результатыunclassified

Section: Introductionunclassified

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Sources of the mitochondrial gene pool of Russians by the results of analysis of modern and paleogenomic data

Malyarchuk

2019

Vestn. VOGiS

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“…To comprehensively investigate whether mitochondrial DNA is a risk factor for colorectal cancer the entire mitochondrial genome sequences of 100 colorectal cancer patients and 100 healthy individuals of Polish origin from the Pomerania-Kujawy region (Poland) were analysed in this study. Additionally, for variants located within hypervariable regions I and II of the mtDNA control region, the statistical calculations were performed using the control group increased to 1353 individuals based on reported data from the general Polish population [22][23][24][25]. The analysis has shown that the R macrohaplogroup and its diagnostic mutations at positions 12705 and 16223 were observed with higher frequencies in colorectal cancer patients compared to healthy individuals.…”

Section: Introductionmentioning

confidence: 99%

Mitogenome germline mutations and colorectal cancer risk in Polish population

Skonieczna

Jawień

Marszałek

et al. 2020

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Introduction: To date, several nuclear DNA variants have been shown to be associated with increased risk of developing colorectal cancer. Despite the fact that mitochondria play an important role in carcinogenesis, little is known about inherited mitochondrial DNA mutations that could be involved in this disease. Thus, potential associations between inherited mutations in the entire mitochondrial genomes and colorectal cancer were analysed in this study. Material and methods: Two hundred mitogenome sequences determined for colorectal cancer patients and healthy individuals from Poland were used to investigate the association between mtDNA alleles or haplogroups and colorectal cancer. Additional mtDNA control region haplotypes determined for 1353 individuals from the general Polish population were used for comparison of haplogroup and certain allele frequencies between case and control groups. Results: The non-R clades together with their diagnostic T alleles at positions 12705 and 16223 were observed with higher frequencies in healthy individuals than in colorectal cancer patients. Nevertheless, the differences of the R macrohaplogroup (as well as 12705 or 16223 alleles) frequencies between cases and controls were statistically insignificant after Bonferroni correction. Most of the non-R clades were of Asian and African origin, but none of them were prevalent in the control group. Moreover, neither mtDNA alleles nor haplogroups were associated with clinicopathological parameters of colorectal cancer patients. Conclusions: Contrary to some previous reports, the findings of this study do not support the hypothesis that mitochondrial DNA variants contribute to inherited predisposition to colorectal cancer.

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Massively parallel sequencing-enabled mixture analysis of mitochondrial DNA samples

et al. 2018

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The mitochondrial genome has a number of characteristics that provide useful information to forensic investigations. Massively parallel sequencing (MPS) technologies offer improvements to the quantitative analysis of the mitochondrial genome, specifically the interpretation of mixed mitochondrial samples. Two-person mixtures with nuclear DNA ratios of 1:1, 5:1, 10:1, and 20:1 of individuals from different and similar phylogenetic backgrounds and three-person mixtures with nuclear DNA ratios of 1:1:1 and 5:1:1 were prepared using the Precision ID mtDNA Whole Genome Panel and Ion Chef, and sequenced on the Ion PGM or Ion S5 sequencer (Thermo Fisher Scientific, Waltham, MA, USA). These data were used to evaluate whether and to what degree MPS mixtures could be deconvolved. Analysis was effective in identifying the major contributor in each instance, while SNPs from the minor contributor's haplotype only were identified in the 1:1, 5:1, and 10:1 two-person mixtures. While the major contributor was identified from the 5:1:1 mixture, analysis of the three-person mixtures was more complex, and the mixed haplotypes could not be completely parsed. These results indicate that mixed mitochondrial DNA samples may be interpreted with the use of MPS technologies.

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Mitogenomic diversity in Russians and Poles

Cited by 20 publications

References 40 publications

Sources of the mitochondrial gene pool of Russians by the results of analysis of modern and paleogenomic data

Sources of the mitochondrial gene pool of Russians by the results of analysis of modern and paleogenomic data

Mitogenome germline mutations and colorectal cancer risk in Polish population

Massively parallel sequencing-enabled mixture analysis of mitochondrial DNA samples

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