High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian Peninsula

High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian Peninsula
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DOI:
10.1086/319521
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发表时间:
2001-04-01
影响因子:
9.8
通讯作者:
Bertranpetit, J
Bertranpetit, J
中科院分区:
生物学1区
文献类型:
--
作者:
Bosch, E;Calafell, F;Bertranpetit, J

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在本研究中,我们分析了来自西北非洲和伊比利亚半岛的种群样本中的44个y染色体双等位基因多态性,这使我们能够在基于bbb150个多态性的系统发育树中明确地放置每条染色体。最引人注目的结果是,当代的西北非洲和伊比利亚人口被发现来自截然不同的父系,直布罗陀海峡似乎是基因流动的一个强大(尽管不是完全的)障碍。在西北非洲人群中,可能起源于东非的旧石器时代晚期殖民地贡献了目前基因库的75%。相比之下,当代伊比利亚人78%的Y染色体起源于旧石器时代晚期从西亚向地中海盆地北部边缘的扩张。这些基因库的较小贡献(在西北非洲占Y染色体的13%,在伊比利亚占Y染色体的10%)来自新石器时代的中东,在随后的基因流动中,从撒哈拉以南到西北非洲。最后,已经发现了直布罗陀海峡两岸的双向基因流动:欧洲Y染色体对西北非洲基因库的遗传贡献估计为4%,而西北非洲人口可能贡献了7%的伊比利亚Y染色体。伊斯兰教对西班牙的统治始于公元711年,持续了近8个世纪,对现在伊比利亚人的y染色体池只留下了很少的贡献。对Y染色体的高分辨率分析使我们能够分离连续的迁移成分,并精确地量化每个历史层。
In the present study we have analyzed 44 Y-chromosome biallelic polymorphisms in population samples from northwestern (NW) Africa and the Iberian Peninsula, which allowed us to place each chromosome unequivocally in a phylogenetic tree based on >150 polymorphisms. The most striking results are that contemporary NW African and Iberian populations were found to have originated from distinctly different patrilineages and that the Strait of Gibraltar seems to have acted as a strong (although not complete) barrier to gene flow. In NW African populations, an Upper Paleolithic colonization that probably had its origin in eastern Africa contributed 75% of the current gene pool. In comparison, similar to 78% of contemporary Iberian Y chromosomes originated in an Upper Paleolithic expansion from western Asia, along the northern rim of the Mediterranean basin. Smaller contributions to these gene pools (constituting 13% of Y chromosomes in NW Africa and 10% of Y chromosomes in Iberia) came from the Middle East during the Neolithic and, during subsequent gene flow, from Sub-Saharan to NW Africa. Finally, bidirectional gene flow across the Strait of Gibraltar has been detected: the genetic contribution of European Y chromosomes to the NW African gene pool is estimated at 4%, and NW African populations may have contributed 7% of Iberian Y chromosomes. The Islamic rule of Spain, which began in A.D. 711 and lasted almost 8 centuries, left only a minor contribution to the current Iberian Y-chromosome pool. The high-resolution analysis of the Y chromosome allows us to separate successive migratory components and to precisely quantify each historical layer.