Department of Epidemiology and Biostatistics, University of California, San Francisco, California, USA; email:
Bakar Computational Health Sciences Institute, University of California, San Francisco, California, USA.
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:591-612. doi: 10.1146/annurev-genom-111521-121903. Epub 2022 Apr 19.
Ancient DNA provides a powerful window into the biology of extant and extinct species, including humans' closest relatives: Denisovans and Neanderthals. Here, we review what is known about archaic hominin phenotypes from genomic data and how those inferences have been made. We contend that understanding the influence of variants on lower-level molecular phenotypes-such as gene expression and protein function-is a promising approach to using ancient DNA to learn about archaic hominin traits. Molecular phenotypes have simpler genetic architectures than organism-level complex phenotypes, and this approach enables moving beyond association studies by proposing hypotheses about the effects of archaic variants that are testable in model systems. The major challenge to understanding archaic hominin phenotypes is broadening our ability to accurately map genotypes to phenotypes, but ongoing advances ensure that there will be much more to learn about archaic hominin phenotypes from their genomes.
古 DNA 为研究现存和已灭绝物种的生物学提供了一个强大的窗口，包括人类最亲近的亲属：丹尼索瓦人和尼安德特人。在这里，我们回顾了从基因组数据中了解到的古人类表型，以及这些推断是如何得出的。我们认为，了解变异对较低层次的分子表型（如基因表达和蛋白质功能）的影响，是利用古 DNA 了解古人类特征的一种很有前途的方法。分子表型的遗传结构比生物体水平的复杂表型更简单，这种方法通过提出关于古变异影响的假设来超越关联研究，这些假设可以在模型系统中进行测试。理解古人类表型的主要挑战是扩大我们将基因型准确映射到表型的能力，但正在进行的进展确保我们将能够从他们的基因组中了解到更多关于古人类表型的信息。
