New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0
New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0
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DOI：
10.1371/journal.pone.0005112
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发表时间：
2009-04-02
期刊：
影响因子：
3.7
通讯作者：
Salas, Antonio
中科院分区：
文献类型：
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作者：
Alvarez-Iglesias, Vanesa;Mosquera-Miguel, Ana;Salas, Antonio
背景：R 0包含欧亚大陆西部最常见的线粒体DNA（mtDNA）谱系，即单倍群H（约占40%）。R 0亚系定义在控制区，因此，诊断编码区多态性的分析是必要的，以获得解决在人口和医学studies.Methodology/主要结果：我们测序的第一高变段（HVS-I）的518个人从不同的北伊比利亚地区。属于R 0（类似于57%）的mtDNA进一步基因分型为一组71个编码区的SNPs特征的主要和次要分支的R 0。我们发现，北伊比利亚半岛显示出中等水平的人口分层，例如，单倍型群V在坎塔布里亚（中北部伊比利亚）达到最高的频率，但较低的加利西亚（西北伊比利亚）和加泰罗尼亚（东北伊比利亚）。与其他欧洲和中东人群相比，H1、H3和H5 a单倍群在法国-坎塔布连地区的频率最高，从西欧向东欧和南欧下降。此外，我们的特点是，通过全基因组测序，一个新的本土分支的单倍群H在巴斯克地区，命名为H2 A5。它的合并年龄为15.668万年前（kya），可以追溯到末次盛冰期（LGM）之后。结论/意义：与其他在末次盛冰期之后在佛朗哥-坎塔布连避难所之外经历了再扩张的H谱系相比（e. G. H1和H3），H2 a5很可能仍然局限于这一地区，直到今天。
Background: R0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (similar to 40%). R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to gain resolution in population and medical studies.Methodology/Principal Findings: We sequenced the first hypervariable segment (HVS-I) of 518 individuals from different North Iberian regions. The mtDNAs belonging to R0 (similar to 57%) were further genotyped for a set of 71 coding region SNPs characterizing major and minor branches of R0. We found that the North Iberian Peninsula shows moderate levels of population stratification; for instance, haplogroup V reaches the highest frequency in Cantabria (north-central Iberia), but lower in Galicia (northwest Iberia) and Catalonia (northeast Iberia). When compared to other European and Middle East populations, haplogroups H1, H3 and H5a show frequency peaks in the Franco-Cantabrian region, declining from West towards the East and South Europe. In addition, we have characterized, by way of complete genome sequencing, a new autochthonous clade of haplogroup H in the Basque country, named H2a5. Its coalescence age, 15.668 thousand years ago (kya), dates to the period immediately after the Last Glacial Maximum (LGM).Conclusions/Significance: In contrast to other H lineages that experienced re-expansion outside the Franco-Cantabrian refuge after the LGM (e. g. H1 and H3), H2a5 most likely remained confined to this area till present days.