Inference of human evolution through cladistic analysis of nuclear DNA restriction polymorphisms.

Inference of human evolution through cladistic analysis of nuclear DNA restriction polymorphisms.
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通过核 DNA 限制性多态性的分支分析推断人类进化。

DOI:
10.1073/pnas.91.14.6515
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发表时间:
1994
影响因子:
11.1
通讯作者:
Cavalli-Sforza,LL
Cavalli-Sforza,LL
中科院分区:
综合性期刊1区
文献类型:
--
作者:
Mountain,JL;Cavalli-Sforza,LL

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在人类群体中的核DNA多态性的测试已经扩展到密切相关的灵长类动物。对于许多多态性,一个等位基因是由两个或两个以上的物种共享的:这种共享的等位基因很可能是祖先的,不仅提供了对灵长类动物之间关系的见解,而且还提供了对现代人类进化史的见解。在全球8个人群中,人类与黑猩猩在79种多态性中有62种具有相同的等位基因。这些祖先等位基因的频率加强了现代人类最早的主要分离是在非洲人和非非洲人之间的结论。据估计,从祖先等位基因突变产生当前多态性的平均时间为70万年。虽然人类群体中祖先等位基因频率之间的差异表明,自然选择可能在这些多态性的一个子集的进化中发挥了作用,但模拟表明,在确定多态性方面的欧洲偏见可能至少部分地对观察到的差异负责。模拟还表明,在非洲人口中观察到的杂合性水平,经典的多态性和限制性片段长度多态性,是人为的低,由于相同的偏见。观察到的平均杂合性和平均祖先等位基因频率的模式提供了支持的假设,欧洲人和东北亚人密切相关。这项工作表明,多态性应该通过测试现存人类的随机样本来选择。
Testing of nuclear DNA polymorphisms in human populations has been extended to closely related primates. For many polymorphisms, one allele is shared by two or more species: such shared alleles are likely to be ancestral and provide insight not only into the relationships among the primates but also into the evolutionary history of modern humans. Humans from among eight worldwide populations share an allele with chimpanzees for 62 out of 79 polymorphisms examined. Frequencies of these ancestral alleles strengthen the conclusion that the earliest major separation of modern humans was between Africans and non-Africans. The average time since mutation of the ancestral alleles producing the current set of polymorphisms is estimated to be 700,000 years. While differences among ancestral allele frequencies in human populations suggest that natural selection may have played a role in the evolution of a subset of these polymorphisms, simulations indicate that a European bias in the ascertainment of polymorphisms may be at least partially responsible for observed differences. Simulations also suggest that observed heterozygosity levels in African populations, for classical polymorphisms and restriction fragment length polymorphisms, are artificially low due to the same bias. Observed patterns of mean heterozygosity and mean ancestral allele frequency provide support for the hypothesis that Europeans and northeast Asians are closely related. This work suggests that polymorphisms should be selected by testing a random sample of extant humans.
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