Torroni A, Bandelt H J, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V, Villems R, Kivisild T, Metspalu E, Parik J, Tolk H V, Tambets K, Forster P, Karger B, Francalacci P, Rudan P, Janicijevic B, Rickards O, Savontaus M L, Huoponen K, Laitinen V, Koivumäki S, Sykes B, Hickey E, Novelletto A, Moral P, Sellitto D, Coppa A, Al-Zaheri N, Santachiara-Benerecetti A S, Semino O, Scozzari R
Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy.
Am J Hum Genet. 2001 Oct;69(4):844-52. doi: 10.1086/323485. Epub 2001 Aug 21.
Mitochondrial HVS-I sequences from 10,365 subjects belonging to 56 populations/geographical regions of western Eurasia and northern Africa were first surveyed for the presence of the T-->C transition at nucleotide position 16298, a mutation which has previously been shown to characterize haplogroup V mtDNAs. All mtDNAs with this mutation were then screened for a number of diagnostic RFLP sites, revealing two major subsets of mtDNAs. One is haplogroup V proper, and the other has been termed "preV," since it predates V phylogenetically. The rather uncommon preV tends to be scattered throughout Europe (and northwestern Africa), whereas V attains two peaks of frequency: one situated in southwestern Europe and one in the Saami of northern Scandinavia. Geographical distributions and ages support the scenario that pre*V originated in Europe before the Last Glacial Maximum (LGM), whereas the more recently derived haplogroup V arose in a southwestern European refugium soon after the LGM. The arrival of V in eastern/central Europe, however, occurred much later, possibly with (post-)Neolithic contacts. The distribution of haplogroup V mtDNAs in modern European populations would thus, at least in part, reflect the pattern of postglacial human recolonization from that refugium, affecting even the Saami. Overall, the present study shows that the dissection of mtDNA variation into small and well-defined evolutionary units is an essential step in the identification of spatial frequency patterns. Mass screening of a few markers identified using complete mtDNA sequences promises to be an efficient strategy for inferring features of human prehistory.
对来自欧亚大陆西部和北非56个种群/地理区域的10365名受试者的线粒体高变区I（HVS-I）序列进行了首次调查，以确定核苷酸位置16298处是否存在T→C转换，此前已证明该突变是单倍群V线粒体DNA的特征。然后，对所有具有该突变的线粒体DNA进行了一些诊断性限制性片段长度多态性（RFLP）位点筛选，揭示了线粒体DNA的两个主要亚群。一个是真正的单倍群V，另一个被称为“前V”，因为它在系统发育上早于V。相当罕见的前V往往分散在整个欧洲（和西北非），而V达到两个频率峰值：一个位于欧洲西南部，另一个位于斯堪的纳维亚北部的萨米人。地理分布和年代支持这样一种情况，即前V在末次盛冰期（LGM）之前起源于欧洲，而较新形成的单倍群V在末次盛冰期后不久出现在欧洲西南部的避难所。然而，V到达欧洲东部/中部的时间要晚得多，可能与（后）新石器时代的接触有关。因此，现代欧洲人群中单倍群V线粒体DNA的分布至少部分反映了从那个避难所冰后期人类重新定居的模式，甚至影响到了萨米人。总体而言，本研究表明，将线粒体DNA变异分解为小的、明确的进化单元是识别空间频率模式的关键步骤。对使用完整线粒体DNA序列鉴定出的少数标记进行大规模筛选有望成为推断人类史前史特征的有效策略。
