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Predicting Archaic Hominin Phenotypes from Genomic Data
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2022-04-20 , DOI: 10.1146/annurev-genom-111521-121903
Colin M Brand 1, 2 , Laura L Colbran 3 , John A Capra 1, 2
Affiliation  

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.

中文翻译:

从基因组数据预测古人类表型

古代DNA为了解现存和灭绝物种的生物学提供了一个强有力的窗口,其中包括人类的近亲: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对古代人类表型的了解以及这些推论是如何做出的。我们认为,了解变异对较低水平分子表型(例如基因表达和蛋白质功能)的影响是利用古代 DNA 来了解古人类特征的一种很有前途的方法。分子表型比生物体水平的复杂表型具有更简单的遗传结构,并且这种方法通过提出关于可在模型系统中测试的古老变异的影响的假设,能够超越关联研究。了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,但不断的进步确保我们可以从基因组中了解更多关于古人类表型的信息。
更新日期:2022-04-20
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