Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia

Ottoni, Claudio; Ricaut, François‐Xavier; Vanderheyden, Nancy; Brucato, Nicolas; Waelkens, Marc; Decorte, Ronny

doi:10.1038/ejhg.2010.230

Cited by 28 publications

(34 citation statements)

References 35 publications

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“…Haplogroups HV and U are the most represented haplogroups in the European population with the estimated frequency of ≥50 and ≥20 %, respectively [17]. Our results are concordant with previous mtDNA control region reports conforming of the prevalence of haplogroup H and U in the Estonian population [32,33]. While haplogroup H was introduced to Europe from the Franco-Cantabrian region, haplogroup U5, which was observed in 13 of our samples (11.4 %), is thought to have evolved in situ [32,17].…”

Section: Resultssupporting

confidence: 91%

Whole mitochondrial genome genetic diversity in an Estonian population sample

et al. 2015

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Mitochondrial DNA is a useful marker for population studies, human identification, and forensic analysis. Commonly used hypervariable regions I and II (HVI/HVII) were reported to contain as little as 25% of mitochondrial DNA variants and therefore the majority of power of discrimination of mitochondrial DNA resides in the coding region. Massively parallel sequencing technology enables entire mitochondrial genome sequencing. In this study, buccal swabs were collected from 114 unrelated Estonians and whole mitochondrial genome sequences were generated using the Illumina MiSeq system. The results are concordant with previous mtDNA control region reports of high haplogroup HV and U frequencies (47.4 and 23.7% in this study, respectively) in the Estonian population. One sample with the Northern Asian haplogroup D was detected. The genetic diversity of the Estonian population sample was estimated to be 99.67 and 95.85%, for mtGenome and HVI/HVII data, respectively. The random match probability for mtGenome data was 1.20 versus 4.99% for HVI/HVII. The nucleotide mean pairwise difference was 27 ± 11 for mtGenome and 7 ± 3 for HVI/HVII data. These data describe the genetic diversity of the Estonian population sample and emphasize the power of discrimination of the entire mitochondrial genome over the hypervariable regions.

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Section: Resultssupporting

confidence: 91%

Whole mitochondrial genome genetic diversity in an Estonian population sample

et al. 2015

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“…All of these SNPs are haplogroup specific, and none of them are directly involved in mtDNA disease pathogenesis. The results show that the determined haplogroup frequencies of our samples were in accordance with the haplogroup distribution in a German population reported by Ottoni et al (25). When we compared the SIDS subgroups and controls, we found significant differences in the allele frequencies of SNPs in the following mtDNA regions: MT-DLOOP, MT-TT, MT-CO2, MT-RNR2, MT-ND5 and MT-ND6.…”

Section: Discussionsupporting

confidence: 91%

Mitochondrial deoxyribonucleic acid may play a role in a subset of sudden infant death syndrome cases

et al. 2014

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Aim: It has been suggested that progressive adenosine triphosphate (ATP) depletion could play a key role in sudden infant death syndrome (SIDS). Because mitochondrial deoxyribonucleic acid (mtDNA) codes for a subset of essential genes for oxidative phosphorylation, we investigated 22 mtDNA polymorphisms in a large sample of Caucasian SIDS cases.Methods: A total of 774 samples were analysed, 365 from infant SIDS cases (mean age 131 days) and 409 from controls. These were investigated for the presence of 22 haplogroup-specific single nucleotide polymorphisms (SNPs), using a SNaPshot assay, a mini-sequencing assay that combines polymerase chain reaction (PCR) and sequencing.Results: No significant differences in assigned haplogroups could be detected between the groups. With regard to gender and age, we found significant correlations for SNP positions 3010, 8251, 13 708, 14 470, 15 904 and 16 519. The most prominent result was the A allele in SNP 14 470 in male SIDS cases (p = 0.01).Conclusion: This is the largest study on mtDNA polymorphisms in SIDS to date, and our results indicate that mtDNA may play a role in a subset of SIDS cases. In order to complement these significant results, it is important to consider nuclear gene coding for mitochondrial proteins in future studies.

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“…The most common haplogroups were found to be H for Lessinia (60%) and Timau (36.9%), U for Sauris (35.4%) and K for Sappada (44.1%). The latter represents the most evident departure from the haplogroup frequencies observed in European populations, where K is found at frequencies that range between 2% and 12% [44].…”

Section: Resultsmentioning

confidence: 89%

Detecting Genetic Isolation in Human Populations: A Study of European Language Minorities

et al. 2013

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The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a Bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four “linguistic islands” of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations.

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Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia

Cited by 28 publications

References 35 publications

Whole mitochondrial genome genetic diversity in an Estonian population sample

Whole mitochondrial genome genetic diversity in an Estonian population sample

Mitochondrial deoxyribonucleic acid may play a role in a subset of sudden infant death syndrome cases

Detecting Genetic Isolation in Human Populations: A Study of European Language Minorities

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