Mitochondrial DNA Portrait of Latvians: Towards the Understanding of the Genetic Structure of Baltic‐Speaking Populations

Pliss, Liana; Tambets, Kristiina; Loogväli, Eva-Liis; Pronina, N.; Lazdins, M.; Krūmiņa, Astrīda; Baumanis, Viesturs; Villems, Richard

doi:10.1111/j.1469-1809.2005.00238.x

Cited by 40 publications

(29 citation statements)

References 77 publications

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“…Among all H sub-branches identified, H1b and H2a are well represented (Figure 2), which is in agreement with previously reported studies of eastern European populations [33], [34]. Belarusian haplogroup V is characterized by three first hypervariable segment (HVS-I) haplotypes (151–153 in Table S2), which are more prevalent in East Europe than in West Europe [11], [26], [35], [36]. Similarly, U5a, another frequent haplogroup, is shown to be more typical for eastern Europeans compared to central and south-eastern ones, whereas haplogroup U5b reflects the input from south-west and Central Europe [37].…”

Section: Resultssupporting

confidence: 90%

Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool

et al. 2013

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Ethnic Belarusians make up more than 80% of the nine and half million people inhabiting the Republic of Belarus. Belarusians together with Ukrainians and Russians represent the East Slavic linguistic group, largest both in numbers and territory, inhabiting East Europe alongside Baltic-, Finno-Permic- and Turkic-speaking people. Till date, only a limited number of low resolution genetic studies have been performed on this population. Therefore, with the phylogeographic analysis of 565 Y-chromosomes and 267 mitochondrial DNAs from six well covered geographic sub-regions of Belarus we strove to complement the existing genetic profile of eastern Europeans. Our results reveal that around 80% of the paternal Belarusian gene pool is composed of R1a, I2a and N1c Y-chromosome haplogroups – a profile which is very similar to the two other eastern European populations – Ukrainians and Russians. The maternal Belarusian gene pool encompasses a full range of West Eurasian haplogroups and agrees well with the genetic structure of central-east European populations. Our data attest that latitudinal gradients characterize the variation of the uniparentally transmitted gene pools of modern Belarusians. In particular, the Y-chromosome reflects movements of people in central-east Europe, starting probably as early as the beginning of the Holocene. Furthermore, the matrilineal legacy of Belarusians retains two rare mitochondrial DNA haplogroups, N1a3 and N3, whose phylogeographies were explored in detail after de novo sequencing of 20 and 13 complete mitogenomes, respectively, from all over Eurasia. Our phylogeographic analyses reveal that two mitochondrial DNA lineages, N3 and N1a3, both of Middle Eastern origin, might mark distinct events of matrilineal gene flow to Europe: during the mid-Holocene period and around the Pleistocene-Holocene transition, respectively.

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Section: Resultssupporting

confidence: 90%

Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool

et al. 2013

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“…Bandelt et al rated HaploGrep to be more sophisticated than the other programs which are able to assign haplogroups automatically [36]. All major European haplogroups – except haplogroup I – were found, and their frequencies were in accordance with those expected among West Europeans (www.mitomap.org, [32]) or Germans ([37]; Table S9). Individuals could not be assigned to haplogroup I, as SNPs at m.10034, m.16129 and m.16391 leading to haplogroup I or any variant which would have led to a sub-haplogroup of haplogroup I were absent from the SNP array (www.phylotree.org, built 11; Fig.…”

Section: Discussionmentioning

confidence: 91%

Mitochondrial DNA Variants in Obesity

et al. 2014

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Heritability estimates for body mass index (BMI) variation are high. For mothers and their offspring higher BMI correlations have been described than for fathers. Variation(s) in the exclusively maternally inherited mitochondrial DNA (mtDNA) might contribute to this parental effect. Thirty-two to 40 mtDNA single nucleotide polymorphisms (SNPs) were available from genome-wide association study SNP arrays (Affymetrix 6.0). For discovery, we analyzed association in a case-control (CC) sample of 1,158 extremely obese children and adolescents and 435 lean adult controls. For independent confirmation, 7,014 population-based adults were analyzed as CC sample of n = 1,697 obese cases (BMI≥30 kg/m2) and n = 2,373 normal weight and lean controls (BMI<25 kg/m2). SNPs were analyzed as single SNPs and haplogroups determined by HaploGrep. Fisher's two-sided exact test was used for association testing. Moreover, the D-loop was re-sequenced (Sanger) in 192 extremely obese children and adolescents and 192 lean adult controls. Association testing of detected variants was performed using Fisher's two-sided exact test. For discovery, nominal association with obesity was found for the frequent allele G of m.8994G/A (rs28358887, p = 0.002) located in ATP6. Haplogroup W was nominally overrepresented in the controls (p = 0.039). These findings could not be confirmed independently. For two of the 252 identified D-loop variants nominal association was detected (m.16292C/T, p = 0.007, m.16189T/C, p = 0.048). Only eight controls carried the m.16292T allele, five of whom belonged to haplogroup W that was initially enriched among these controls. m.16189T/C might create an uninterrupted poly-C tract located near a regulatory element involved in replication of mtDNA. Though follow-up of some D-loop variants still is conceivable, our hypothesis of a contribution of variation in the exclusively maternally inherited mtDNA to the observed larger correlations for BMI between mothers and their offspring could not be substantiated by the findings of the present study.

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“…Despite that fact that the Estonian population data has been used for migration studies based on its mtDNA HVI region and a number of coding region single nucleotide polymorphisms [17,18,16], to the best of our knowledge there are no published whole mtGenome data. The objective of this study was to describe the genetic variability of mtGenome in an Estonian population sample and to compare the discrimination power of mtGenome with solely HVI/HVII data.…”

Section: Introductionmentioning

confidence: 92%

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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Mitochondrial DNA Portrait of Latvians: Towards the Understanding of the Genetic Structure of Baltic‐Speaking Populations

Cited by 40 publications

References 77 publications

Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool

Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool

Mitochondrial DNA Variants in Obesity

Whole mitochondrial genome genetic diversity in an Estonian population sample

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