Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.
Proc Natl Acad Sci U S A. 2014 May 6;111(18):6666-71. doi: 10.1073/pnas.1405138111. Epub 2014 Apr 21.
We present the DNA sequence of 17,367 protein-coding genes in two Neandertals from Spain and Croatia and analyze them together with the genome sequence recently determined from a Neandertal from southern Siberia. Comparisons with present-day humans from Africa, Europe, and Asia reveal that genetic diversity among Neandertals was remarkably low, and that they carried a higher proportion of amino acid-changing (nonsynonymous) alleles inferred to alter protein structure or function than present-day humans. Thus, Neandertals across Eurasia had a smaller long-term effective population than present-day humans. We also identify amino acid substitutions in Neandertals and present-day humans that may underlie phenotypic differences between the two groups. We find that genes involved in skeletal morphology have changed more in the lineage leading to Neandertals than in the ancestral lineage common to archaic and modern humans, whereas genes involved in behavior and pigmentation have changed more on the modern human lineage.
我们呈现了来自西班牙和克罗地亚的两个尼安德特人共 17367 个编码蛋白质的基因的 DNA 序列，并将其与最近从西伯利亚南部的尼安德特人基因组序列进行了分析。与来自非洲、欧洲和亚洲的现代人类进行比较后发现，尼安德特人的遗传多样性非常低，他们携带的改变蛋白质结构或功能的氨基酸变化（非同义）等位基因比例高于现代人类。因此，欧亚大陆的尼安德特人拥有比现代人类更小的长期有效种群数量。我们还在尼安德特人和现代人类中鉴定了可能导致这两个群体之间表型差异的氨基酸替换。我们发现，在导致尼安德特人出现的进化支系中，与骨骼形态相关的基因变化比在古人类和现代人类共有的祖先支系中更多，而与行为和色素沉着相关的基因在现代人类进化支系中变化更多。
