Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia

Alfonso‐Sánchez, Miguel Á.; Martínez-Bouzas, Cristina; Castro, Azucena; Peña, José A.; Fernández-Fernández, I; Herrera, René J.; Pancorbo, Marian M. de

doi:10.1007/s10038-006-0381-x

Cited by 9 publications

(2 citation statements)

References 57 publications

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“…Figure 3 illustrates a phylogenetic tree constructed on the basis of the HV1 and HV2 motifs of haplogroup-speciˆc sequences of East Asian populations described in recent surveys 19 25) . The tree is rooted in haplogroup L3 32,37) . Black boxes are super-haplogroups (M, N and R), gray boxes are East Asian-speciˆc major-haplogroups (A, B, CZ, D, F, G, M7, M8, M9, M10, M11 and N9), white background boxes are sub-haplogroups observed in the present study, mainly (A4, A5, B4 (B4a, B4b, B4b1, B4b1a1), B5 (B5a, B5b), F1 (F1a, F1b, F1c), F2 (F2a), C, D4 (D4a, D4b1a, D4b2b), D5 (D5a, D5a1, D5a2), M9a, G1 (G1a, G1b), G2 (G2a1, G2a1a), G4a, M7a (M7a1), M7b (M7b1, M7b2), M7c, M8a, M10a, N9 (N9a1, N9a2) and Y) 17 26) .…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture

Uchiyama¹,

Hisazumi²,

Shimizu³

et al. 2007

Jpn. J. Forensic. Sci. Tech.

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Sequence variation in hypervariable regions HV1 and HV2 in the control region of mitochondrial DNA (mtDNA) was studied in 100 unrelated Japanese individuals living in Miyazaki Prefecture (in southern Japan) by PCR ampliˆcation and direct sequencing. PCR and sequencing primer sets designed for the C stretch region at around position 16189 in HV1 and position 310 in HV2 were used. Sequence comparison revealed the existence of 90 diŠerent haplotypes in 120 variable positions, and of these 82, were unique, 6 were observed twice and 2 were observed three times. Genetic diversity was estimated at 0.999 and the probability of two randomly selected sequences matching (Random Match Probability, RMP) was 1.24. The C stretch region in HV1 was observed in 35 of individuals. The average number of nucleotide diŠerences was 9.61 for HV1 and HV2. The majority of sequence variations were substitutions, particularly transitions from thymidine to cytosine (42.6). Sequence heteroplasmy was not found in this study. Based on the observed polymorphic sites in HV1 and HV2, haplogroups D4 (D4a), M7a, M7b, N9a were the most commonly observed clusters. The resulting data were compared with some existing Japanese mtDNA databases. The present data contribute to expansion of the Japanese mtDNA database, particularly the database for Miyazaki Prefecture. These results show that an mtDNA database is very useful in forensic examination for identiˆcation of individuals.

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Section: Resultsmentioning

confidence: 99%

Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture

Uchiyama¹,

Hisazumi²,

Shimizu³

et al. 2007

Jpn. J. Forensic. Sci. Tech.

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“…The populations included were the Balkans (GenBank, accession nos. AY005485.1‐AY005795.1), England (Piercy et al,1993), France (Rousselet and Mangin,1998), Georgia (Alfonso‐Sanchez et al,2006), Germany (Lutz et al,1998), Iceland (Helgason et al,2000), Portugal (Pereira et al,2000), Spain (Alvarez et al,2007), and Tuscany (Francalacci et al,1996). In the Spanish data set, 17 individuals were sampled in the Basque country and were therefore excluded from our analyses: GRX063, GRX065, GRX080, GRX108, GRX133, GRX298, GRX036, GRX147, GRX015, GRX222, GRX011, GRX081, GRX142, GRX152, GRX170, GRX256, and GRX257.…”

Section: Methodsmentioning

confidence: 99%

Mitochondrial DNA analysis of an immigrant basque population: Loss of diversity due to founder effects

Davis

Novak

Hampikian

2010

American J Phys Anthropol

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The Basques have a well-documented history of migration and settlement in the Americas, and they often retain cultural identity across generations. Numerous genetic studies have been carried out on European Basques; thus, immigrant Basques are an ideal population for investigating the genetic consequences of a recent human migration event. We have sampled 53 unrelated individuals with Basque ancestry in Boise, Idaho and determined the mitochondrial DNA (mtDNA) sequence variation of the first and second hypervariable regions. Thirty-six mtDNA haplotypes were detected in our sample. We found evidence of genetic changes consistent with founder effects, which is compatible with the known history of migration. Compared with the European Basque population, the immigrant Basques are significantly different in terms of haplogroup frequency distribution and diversity. They have a lower measure of weighted intralineage mean pairwise diversity (WIMP) and greater genetic distance from other European populations. These data indicate that this immigrant Basque population has experienced a reduction in genetic diversity compared with the putative source population. However, this loss of diversity is not detectable using indices of demographic history such as Tajima's D and Fu's F. This study represents the first description of mtDNA diversity in an immigrant Basque population, and our findings indicate that founder effects accompanying this relatively recent migration event have shaped the genetic diversity of this population.

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Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms

Alfonso‐Sánchez

Cardoso

Martínez-Bouzas

et al. 2008

American J Hum Biol

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This study provides a more complete characterization of the mitochondrial genome variability of the Basques, including data on the hypervariable segment HVII of the D-loop region, which remains relatively unknown. To that end, genomic DNA from 55 healthy men living in the Arratia Valley (Biscay province) and the Goiherri region (Guipúzcoa province) was examined by direct sequencing. Three-generation pedigree charts were compiled to ensure the collection from autochthonous individuals. The most notable findings emerging from the analysis of haplogroup composition are: (i) lack of U8a mitochondrial lineage, a rare subhaplogroup recently identified in Basques and proposed as a Paleolithic marker, (ii) low frequency of haplogroup V, which conflicts with results of earlier analyses describing high frequencies in southwestern Europe, and (iii) high frequency of haplogroup J, especially subhaplogroups J1c1 and J2a. The frequency of haplogroup J does not coincide with previous mtDNA studies in present-day Basques, but is congruent with frequencies found in prehistoric and historic Basque populations. In explaining divergence in haplogroup composition between modern Basque samples, we hypothesized spatial heterogeneity promoted by population fragmentation due to extreme limitation of dispersal opportunities during the Pleistocene glaciations. Similarities between extinct and extant Basque populations as for the high frequency of lineage J, as well as the abundance of this haplogroup in northern Spain endorse a shift in the focus of attention of mtDNA analysts. A refined dissection of haplogroup J might provide more solid evidence about the process of postglacial recolonization of Europe, and thus about the shaping of the European gene pool.

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Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia

Cited by 9 publications

References 57 publications

Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture

Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture

Mitochondrial DNA analysis of an immigrant basque population: Loss of diversity due to founder effects

Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms

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