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连锁变异与倭黑猩猩的社会行为差异有关()。

Linked Variants Are Associated with Social Behavior Differences in Bonobos ().

作者信息

Skiba Sara A, Hansen Alek, McCall Ryan, Byers Azeeza, Waldron Sarah, Epping Amanda J, Taglialatela Jared P, Hudson Martin L

机构信息

Ape Cognition and Conservation Initiative (Ape Initiative), Des Moines, IA.

Kennesaw State University, Department of Molecular and Cellular Biology, Kennesaw, GA.

出版信息

bioRxiv. 2023 Dec 23:2023.12.22.573122. doi: 10.1101/2023.12.22.573122.

Abstract

Single-nucleotide polymorphisms (SNPs) in forkhead box protein P2 () and oxytocin receptor () genes have been associated with linguistic and social development in humans, as well as to symptom severity in autism spectrum disorder (ASD). Studying biobehavioral mechanisms in the species most closely related to humans can provide insights into the origins of human communication, and the impact of genetic variation on complex behavioral phenotypes. Here, we aimed to determine if bonobos () exhibit individual variation in and loci that have been associated with human social development and behavior. Although the ASD-related variants were reported in 13-41% of the human population, we did not find variation at these loci in our sample of 13 bonobos. However, we did identify a novel variant in bonobo , as well as four novel variants in bonobo that were 17-184 base pairs from the human ASD variants. We also found the same linked, homozygous allelic combination across the 4 novel SNPs (homozygous TGTC) in 6 of the 13 bonobos, indicating that this combination may be under positive selection. When comparing the combined genotypes, we found significant group differences in social behavior; bonobos with zero copies of the TGTC combination were less social than bonobos with one copy of the TGTC combination. Taken together, our findings suggest that these variants may influence individual-level social behavior in bonobos and support the notion that linked genetic variants are promising risk factors for social communication deficits in humans.

摘要

叉头框蛋白P2(FOXP2)基因和催产素受体(OXTR)基因中的单核苷酸多态性(SNP)与人类的语言和社会发展以及自闭症谱系障碍(ASD)的症状严重程度有关。研究与人类关系最密切的物种中的生物行为机制,可以深入了解人类交流的起源,以及基因变异对复杂行为表型的影响。在这里,我们旨在确定倭黑猩猩在与人类社会发展和行为相关的FOXP2和OXTR位点上是否存在个体差异。尽管在13% - 41%的人类群体中报告了与ASD相关的变异,但在我们的13只倭黑猩猩样本中,我们没有在这些位点发现变异。然而,我们确实在倭黑猩猩FOXP2中鉴定出一个新变异,以及在倭黑猩猩OXTR中鉴定出四个新变异,这些变异与人类ASD变异相差17 - 184个碱基对。我们还在13只倭黑猩猩中的6只中发现了跨越4个新的OXTR SNP(纯合子TGTC)的相同连锁、纯合等位基因组合,表明这种组合可能处于正选择之下。在比较组合的OXTR基因型时,我们发现社会行为存在显著的群体差异;没有TGTC组合拷贝的倭黑猩猩比有一个TGTC组合拷贝的倭黑猩猩社交性更差。综上所述,我们的研究结果表明,这些OXTR变异可能会影响倭黑猩猩个体水平的社会行为,并支持连锁基因变异是人类社会交流缺陷的潜在风险因素这一观点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b95/10769379/ee891ed7d730/nihpp-2023.12.22.573122v1-f0001.jpg

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