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欧洲的人口构成与Y染色体单倍群R-M269的警示故事

The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269.

作者信息

Busby George B J, Brisighelli Francesca, Sánchez-Diz Paula, Ramos-Luis Eva, Martinez-Cadenas Conrado, Thomas Mark G, Bradley Daniel G, Gusmão Leonor, Winney Bruce, Bodmer Walter, Vennemann Marielle, Coia Valentina, Scarnicci Francesca, Tofanelli Sergio, Vona Giuseppe, Ploski Rafal, Vecchiotti Carla, Zemunik Tatijana, Rudan Igor, Karachanak Sena, Toncheva Draga, Anagnostou Paolo, Ferri Gianmarco, Rapone Cesare, Hervig Tor, Moen Torolf, Wilson James F, Capelli Cristian

机构信息

Department of Zoology, University of Oxford, Oxford, UK.

出版信息

Proc Biol Sci. 2012 Mar 7;279(1730):884-92. doi: 10.1098/rspb.2011.1044. Epub 2011 Aug 24.

DOI:10.1098/rspb.2011.1044
PMID:21865258
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3259916/
Abstract

Recently, the debate on the origins of the major European Y chromosome haplogroup R1b1b2-M269 has reignited, and opinion has moved away from Palaeolithic origins to the notion of a younger Neolithic spread of these chromosomes from the Near East. Here, we address this debate by investigating frequency patterns and diversity in the largest collection of R1b1b2-M269 chromosomes yet assembled. Our analysis reveals no geographical trends in diversity, in contradiction to expectation under the Neolithic hypothesis, and suggests an alternative explanation for the apparent cline in diversity recently described. We further investigate the young, STR-based time to the most recent common ancestor estimates proposed so far for R-M269-related lineages and find evidence for an appreciable effect of microsatellite choice on age estimates. As a consequence, the existing data and tools are insufficient to make credible estimates for the age of this haplogroup, and conclusions about the timing of its origin and dispersal should be viewed with a large degree of caution.

摘要

最近,关于欧洲主要Y染色体单倍群R1b1b2-M269起源的争论再度燃起,观点已从旧石器时代起源转向这些染色体在新石器时代从近东地区较晚扩散的概念。在此,我们通过研究迄今所汇集的最大规模R1b1b2-M269染色体集合中的频率模式和多样性来探讨这一争论。我们的分析揭示,多样性不存在地理趋势,这与新石器时代假说下的预期相悖,并为最近所描述的明显的多样性渐变提出了另一种解释。我们进一步研究了基于短串联重复序列(STR)的、针对R-M269相关谱系迄今所提出的到最近共同祖先的时间估计,发现有证据表明微卫星选择对年龄估计有显著影响。因此,现有数据和工具不足以对该单倍群的年龄做出可靠估计,关于其起源和扩散时间的结论应极为谨慎地看待。

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本文引用的文献

1
Wave-of-advance models of the diffusion of the Y chromosome haplogroup R1b1b2 in Europe.欧洲 Y 染色体单倍型 R1b1b2 扩散的前进波模型。
PLoS One. 2011;6(6):e21592. doi: 10.1371/journal.pone.0021592. Epub 2011 Jun 24.
2
Signatures of the preagricultural peopling processes in sub-Saharan Africa as revealed by the phylogeography of early Y chromosome lineages.非洲撒哈拉以南地区早期 Y 染色体谱系的系统地理学揭示了前农业时代人群迁徙过程的特征。
Mol Biol Evol. 2011 Sep;28(9):2603-13. doi: 10.1093/molbev/msr089. Epub 2011 Apr 4.
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The history and geography of the Y chromosome SNPs in Europe: an update.欧洲Y染色体单核苷酸多态性的历史与地理:最新进展
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4
Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.Y 染色体微卫星的变异性:速率、特征、分子基础和法医学意义。
Am J Hum Genet. 2010 Sep 10;87(3):341-53. doi: 10.1016/j.ajhg.2010.08.006.
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A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe.中、西欧全新世时期主要 Y 染色体单倍群 R1b 的创始效应。
Eur J Hum Genet. 2011 Jan;19(1):95-101. doi: 10.1038/ejhg.2010.146. Epub 2010 Aug 25.
6
Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152.Y 染色体单核苷酸多态性 M269、U106 和 U152 揭示的强烈的大陆内和大陆间分化。
Forensic Sci Int Genet. 2011 Jun;5(3):e49-52. doi: 10.1016/j.fsigen.2010.07.006. Epub 2010 Aug 22.
7
A comparison of Y-chromosome variation in Sardinia and Anatolia is more consistent with cultural rather than demic diffusion of agriculture.与农业的人口扩散相比,在撒丁岛和安纳托利亚的 Y 染色体变异的比较更符合文化扩散。
PLoS One. 2010 Apr 29;5(4):e10419. doi: 10.1371/journal.pone.0010419.
8
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