Patterns of coding variation in the complete exomes of three Neandertals
Patterns of coding variation in the complete exomes of three Neandertals
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DOI：
10.1073/pnas.1405138111
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发表时间：
2014-05-06
影响因子：
11.1
通讯作者：
Paeaebo, Svante
中科院分区：
文献类型：
--
作者：
Castellano, Sergi;Parra, Genis;Paeaebo, Svante
我们展示了来自西班牙和克罗地亚的两个尼安德特人的17，367个蛋白质编码基因的DNA序列，并与最近从西伯利亚南部的尼安德特人中确定的基因组序列一起分析它们。与来自非洲、欧洲和亚洲的现代人类的比较表明，尼安德特人的遗传多样性非常低，而且他们携带的氨基酸改变（非同义）等位基因的比例高于现代人类，这些等位基因被推断为改变蛋白质结构或功能。因此，整个欧亚大陆的尼安德特人的长期有效人口比现在的人类要少。我们还确定了尼安德特人和现代人类的氨基酸替换，这可能是两组之间表型差异的基础。我们发现，与骨骼形态相关的基因在尼安德特人谱系中的变化比古代和现代人类共同的祖先谱系中的变化更多，而与行为和色素沉着相关的基因在现代人类谱系中的变化更多。
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.