The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
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DOI：
10.1016/j.ajhg.2012.01.002
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发表时间：
2012-03-09
影响因子：
9.8
通讯作者：
Quintana-Murci, Lluis
中科院分区：
文献类型：
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作者：
Behar, Doron M.;Harmant, Christine;Quintana-Murci, Lluis
不同的证据表明，在晚冰期和冰后期，来自佛朗哥-坎塔布里亚地区的人口在西欧和中欧的大部分地区重新定居。在这种情况下，研究当代巴斯克人的遗传多样性是特别有用的，因为他们说的是一种被认为是语言孤立的非印欧语言。与全基因组分析和Y染色体数据相比，仍然存在时间估计不佳的问题，人类mtDNA的新时间尺度已经建立，并使该基因组成为研究欧洲史前史的最具信息量的标记。在这里，我们的目标是增加知识的巴斯克人的起源，更普遍的是，在欧洲的冰川后重新人口的佛朗哥-坎塔布里亚避难所的作用。因此，我们描述了来自巴斯克地区和邻近地区的908名巴斯克人和非巴斯克人的母系祖先，并通过对420个完整的mtDNA基因组进行测序，我们将重点放在单倍型群H上。我们鉴定了6个mtDNA单倍型群，H1 j1，H1 t1，H2 a5 a1、H1 av 1、H3c 2a和H1 e1 a1，它们是法语-坎塔布里亚地区的土著，更具体地说，是巴斯克语人群的土著。我们检测到这些单倍型群在近似4，000年前（YBP）扩展的信号，并估计它们与泛欧基因库的分离近似8，000 YBP，早于印欧人到达该地区。我们的研究结果清楚地支持假设的部分遗传连续性的当代巴斯克人与前旧石器时代/中石器时代定居者的家园。
Different lines of evidence point to the resettlement of much of western and central Europe by populations from the Franco-Cantabrian region during the Late Glacial and Postglacial periods. In this context, the study of the genetic diversity of contemporary Basques, a population located at the epicenter of the Franco-Cantabrian region, is particularly useful because they speak a non-Indo-European language that is considered to be a linguistic isolate. In contrast with genome-wide analysis and Y chromosome data, where the problem of poor time estimates remains, a new timescale has been established for the human mtDNA and makes this genome the most informative marker for studying European prehistory. Here, we aim to increase knowledge of the origins of the Basque people and, more generally, of the role of the Franco-Cantabrian refuge in the postglacial repopulation of Europe. We thus characterize the maternal ancestry of 908 Basque and non-Basque individuals from the Basque Country and immediate adjacent regions and, by sequencing 420 complete mtDNA genomes, we focused on haplogroup H. We identified six mtDNA haplogroups, H1j1, H1t1., H2a5a1, H1av1, H3c2a, and H1e1a1, which are autochthonous to the Franco-Cantabrian region and, more specifically, to Basque-speaking populations. We detected signals of the expansion of these haplogroups at similar to 4,000 years before present (YBP) and estimated their separation from the pan-European gene pool at similar to 8,000 YBP, antedating the Indo-European arrival to the region. Our results clearly support the hypothesis of a partial genetic continuity of contemporary Basques with the preceding Paleolithic/Mesolithic settlers of their homeland.