近日，以色列耶路撒冷希伯来大学Liran Carmel和David Gokhman课题组合作，利用DNA甲基化图谱重建了丹尼索瓦人的解剖结构。该研究2019年9月19日发表于国际学术期刊《细胞》。

他们提出了一种使用DNA甲基化模型重建骨骼形态的方法。他们的方法基于将单向甲基化变化与功能丧失表型联系起来。他们通过重建尼安德特人和黑猩猩骨骼形态来测试性能，并且在识别不同性状方面达到> 85％的精确度。然后他们将这种方法应用于丹尼索瓦人并提供假定的形态学特征。他们表明丹尼索瓦人可能与尼安德特人具有共同的特征，例如拉长的脸和宽的骨盆。他们还鉴定了由丹尼索瓦人衍生的变化，例如增加的牙弓和侧向颅骨扩张。他们的预测与迄今为止唯一具有形态学信息的丹尼索瓦人骨头以及许昌头骨相匹配，有些人认为它是一个丹尼索瓦人。他们得出结论，DNA甲基化可用于重建解剖学特征，包括一些在化石记录中无法保存的特征。

研究人员表示，丹尼索瓦人是一个已灭绝的人群，其形态仍然未知。

附：英文原文

Title: Reconstructing Denisovan Anatomy Using DNA Methylation Maps

Author: David Gokhman, Nadav Mishol, Marc de Manuel, David de Juan, Jonathan Shuqrun, Eran Meshorer, Tomas Marques-Bonet, Yoel Rak, Liran Carmel

Issue&Volume: Volume 179 Issue 1

Summary: 

Denisovans are an extinct group of humans whose morphology remains unknown. Here, we present a method for reconstructing skeletal morphology using DNA methylation patterns. Our method is based on linking unidirectional methylation changes to loss-of-function phenotypes. We tested performance by reconstructing Neanderthal and chimpanzee skeletal morphologies and obtained >85% precision in identifying divergent traits. We then applied this method to the Denisovan and offer a putative morphological profile. We suggest that Denisovans likely shared with Neanderthals traits such as an elongated face and a wide pelvis. We also identify Denisovan-derived changes, such as an increased dental arch and lateral cranial expansion. Our predictions match the only morphologically informative Denisovan bone to date, as well as the Xuchang skull, which was suggested by some to be a Denisovan. We conclude that DNA methylation can be used to reconstruct anatomical features, including some that do not survive in the fossil record.

DOI: 10.1016/j.cell.2019.08.035

Source: https://www.cell.com/cell/fulltext/S0092-8674(19)30954-7