Human self-domestication (i.e., the presence of traits in our species that are commonly found in domesticated animals) has been hypothesized to have contributed to the emergence of many human-specific features, including aspects of our cognition and behavior. Signs of self-domestication have been claimed to be attenuated in individuals with autism spectrum disorders (ASD), this conceivably accounting for facets of their distinctive cognitive and behavioral profile, although this possibility needs to be properly tested. In this study, we have found that candidate genes for mammal domestication, but not for neural crest development and function, are significantly dysregulated in the blood of subjects with ASD. The set of differentially expressed genes (DEGs) is enriched in biological and molecular processes, as well as in pathological phenotypes, of relevance for the etiology of ASD, like lipid metabolism, cell apoptosis, the activity of the insulin-like growth factor, gene expression regulation, skin/hair anomalies, musculoskeletal abnormalities, and hearing impairment. Moreover, among the DEGs, there are known candidates for ASD and/or genes involved in biological processes known to be affected in ASD. Our findings give support to the view that one important aspect of the etiopathogenesis of ASD is the abnormal manifestation of features of human self-domestication.

中文翻译：

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在自闭症哺乳动物中积极选择的基因在自闭症谱系障碍患者的血液中明显失调。

据推测，人类的自我驯化（即，在我们的物种中通常存在于驯养动物中的性状的存在）有助于许多人类特有的特征的出现，包括我们的认知和行为方面。据称自闭症的迹象在患有自闭症谱系障碍（ASD）的个体中减弱了，这可以认为是其独特认知和行为特征的各个方面，尽管这种可能性需要进行适当的测试。在这项研究中，我们发现在ASD受试者的血液中，哺乳动物驯化而不是神经neural发育和功能的候选基因显着失调。差异表达基因（DEG）的集合丰富了生物学和分子过程以及病理表型，与ASD病因的相关性，例如脂质代谢，细胞凋亡，胰岛素样生长因子的活性，基因表达调节，皮肤/头发异常，肌肉骨骼异常和听力障碍。此外，在DEG中，已知ASD的候选者和/或与已知在ASD中受影响的生物过程有关的基因。我们的发现支持以下观点：ASD的发病机制的一个重要方面是人类自我驯化特征的异常表现。有已知的ASD候选物和/或与已知受ASD影响的生物过程有关的基因。我们的发现支持以下观点：ASD的发病机制的一个重要方面是人类自我驯化特征的异常表现。有已知的ASD候选物和/或与已知受ASD影响的生物过程有关的基因。我们的发现支持以下观点：ASD的发病机制的一个重要方面是人类自我驯化特征的异常表现。