Genetic Structure of the Ancestral Population of Modern Humans
Genetic Structure of the Ancestral Population of Modern Humans
复制标题
现代人类祖先的遗传结构
DOI：
10.1007/pl00006371
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发表时间：
1998
影响因子：
3.9
通讯作者：
D. Labuda
中科院分区：
文献类型：
--
作者：
E. Ziętkiewicz;V. Yotova;M. Jarnik;M. Korab;K. Kidd;D. Modiano;R. Scozzari;M. Stoneking;S. Tishkoff;M. Batzer;D. Labuda
抽象的。先前在全球样本（n = 250 条染色体）中确定的抗肌营养不良蛋白基因 8 kb 片段的中性 DNA 多态性被用来表征当今人类群体的祖先群体。每个多态性位点的祖先状态是通过将人类变异与其在类人猿中的直系同源位点进行比较来确定的。潜在突变的“固定前年龄”是根据新等位基因的频率估计的，并在来自非洲、欧洲、亚洲、新几内亚和美洲的 13 个人群（总共 860 条染色体）中这些多态性分布的背景下进行了分析。 17 个距今 100,000-200,000 年的多态性对所有人类群体来说都是常见的，它们对总体核苷酸多样性贡献了约 90%。人类特有的多态性或大陆限制的多态性年龄小于 100,000-200,000 年。拥有 13 个此类位点的非洲人（6 个种群）在世界其他地区（7 个种群）中脱颖而出，后者仅观察到 2 个种群特异性变异。非洲人和非非洲人的旧多态性频率的相似性表明，在现代人类分化之前，人群中的遗传变异性具有相似的特征。根据核苷酸多样性估计，该祖先群体的有效规模约为 10,000；这一规模可能描述了中更新世在很长一段时间内繁殖个体的数量，或者反映了该时期末期最初较大种群的物种形成瓶颈。
Abstract. Neutral DNA polymorphisms from an 8-kb segment of the dystrophin gene, previously ascertained in a worldwide sample (n= 250 chromosomes), were used to characterize the population ancestral to the present-day human groups. The ancestral state of each polymorphic site was determined by comparing human variants with their orthologous sites in the great apes. The ``age before fixation'' of the underlying mutations was estimated from the frequencies of the new alleles and analyzed in the context of these polymorphisms' distribution among 13 populations from Africa, Europe, Asia, New Guinea, and the Americas (n= 860 chromosomes in total). Seventeen polymorphisms older tan 100,000–200,000 years, which contributed ∼90% to the overall nucleotide diversity, were common to all human groups. Polymorphisms endemic to human groups or continentally restricted were younger than 100,000–200,000 years. Africans (six populations) with 13 such sites stood out from the rest of the world (seven populations), where only 2 population-specific variants were observed. The similarity of the frequencies of the old polymorphisms in Africans and non-Africans suggested a similar profile of genetic variability in the population before the modern human's divergence. This ancestral population was characterized by an effective size of about 10,000 as estimated from the nucleotide diversity; this size may describe the number of breeding individuals over a long time during the Middle Pleistocene or reflect a speciation bottleneck from an initially larger population at the end of this period.
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影响因子：
9.8
作者：
Ranajit Chakraborty;M. Kamboh;M. Nwankwo;R. Ferrell
通讯作者：
Ranajit Chakraborty;M. Kamboh;M. Nwankwo;R. Ferrell
影响因子：
3.3
作者：
J. Hey;J. Wakeley
通讯作者：
J. Hey;J. Wakeley
Alu 元件的 DNA 序列表明人类常染色体遗传互补体最近发生了替换。
DOI：
10.1073/pnas.93.9.4360
发表时间：
1996
影响因子：
11.1
作者：
Knight,A;Batzer,MA;Stoneking,M;Tiwari,HK;Scheer,WD;Herrera,RJ;Deininger,PL
通讯作者：
Deininger,PL
DOI：
10.1073/pnas.88.3.839
发表时间：
1991-02-01
影响因子：
11.1
作者：
BOWCOCK, AM;KIDD, JR;CAVALLISFORZA, LL
通讯作者：
CAVALLISFORZA, LL
用于调查分子遗传多样性的最佳测序策略。
影响因子：
3.3
作者：
Pluzhnikov,A;Donnelly,P
通讯作者：
Donnelly,P