The emerging tree of west Eurasian mtDNAs:: A synthesis of control-region sequences and RFLPs
The emerging tree of west Eurasian mtDNAs:: A synthesis of control-region sequences and RFLPs
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DOI：
10.1086/302204
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发表时间：
1999-01-01
影响因子：
9.8
通讯作者：
Torroni, A
中科院分区：
文献类型：
--
作者：
Macaulay, V;Richards, M;Torroni, A
现在，人类线粒体基因组 (mtDNA) 的变异已被常规地描述并用于推断人类的历史，方法是通过两种程序之一，即整个基因组中的 RFLP 分析和部分控制区 (CR) 的测序。使用来自近东和西北高加索地区的 95 个样本，我们提出了基于这两个系统的分析，证明了它们的一致性，并利用其他可用信息，提出了迄今为止最精确的欧亚西部 mtDNA 系统发育。我们描述并应用 mtDNA 簇的命名法。鉴定高变核苷酸，并评估两个系统的相对突变率。我们指出仍然存在歧义的地方，每个簇的特征突变的识别使我们应用分层方案来确定柏柏尔语使用者样本的簇组成，之前仅分析了 CR 变异。我们发现，北非主要的本土线粒体群是欧洲最古老的线粒体 DNA 群（hom）的姐妹群，它在大约 5 万年前就开始分化。
Variation in the human mitochondrial genome (mtDNA) is now routinely described and used to infer the histories of peoples, by means of one of two procedures, namely, the assaying of RFLPs throughout the genome and the sequencing of parts of the control region (CR). Using 95 samples from the Near East and northwest Caucasus, we present an analysis based on both systems, demonstrate their concordance, and, using additional available information, present the most refined phylogeny to date of west Eurasian mtDNA. We describe and apply a nomenclature for mtDNA clusters. Hypervariable nucleotides are identified, and the relative mutation rates of the two systems are evaluated. We point out where ambiguities remain, The identification of signature mutations for each cluster leads us to apply a hierarchical scheme for determining the cluster composition of a sample of Berber speakers, previously analyzed only for CR variation. We show that the main indigenous North African cluster is a sister group to the most ancient cluster of European mtDNAs, hom which it diverged similar to 50,000 years ago.