远古根源:寒武纪自闭症易感基因大爆发

IF 5.3 2区 医学 Q1 BEHAVIORAL SCIENCES Autism Research Pub Date : 2023-07-08 DOI:10.1002/aur.2984
Emily L. Casanova
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引用次数: 1

摘要

功能基因群通常共享独特的进化模式。目前的研究探讨了自闭症易感基因是否与其他基因群相比表现出不同寻常的基因年龄和保护模式,这些基因经常共享功能重叠。利用系统地层学和其他遗传数据,研究者探索了自闭症易感性、神经系统、发育调节、免疫、管家和奢侈基因群的平均基因年龄、基因状态、进化速率、变异不耐受和蛋白质-蛋白质(PPI)相互作用的数量。与对照组相比,自闭症易感基因异常古老,许多基因在寒武纪早期脊椎动物的全基因组复制事件中辐射出来。它们在整个动物王国中也是高度保守的,具有高度的变异不耐性,并且比其他基因具有更多的PPI -所有这些特征都表明极端的剂量敏感性。目前的研究结果表明,自闭症易感基因显示出独特的辐射和保护模式,这可能反映了早期动物神经系统进化的主要转变,这在今天仍然是大脑发育的基础。
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Ancient roots: A Cambrian explosion of autism susceptibility genes

Functional gene groups often share unique evolutionary patterns. The present study addresses whether autism susceptibility genes, which frequently share functional overlap, display unusual gene age and conservation patterns compared to other gene groups. Using phylostratigraphically-derived and other genetic data, the investigator explores average gene age, Ohnolog status, evolutionary rate, variation intolerance, and numbers of protein–protein (PPI) interactions across autism susceptibility, nervous system, developmental regulatory, immune, housekeeping, and luxury gene groups. Autism susceptibility genes are unusually old compared to controls, many genes having radiated in the Cambrian period in early vertebrates from whole genome duplication events. They are also tightly conserved across the animal kingdom, are highly variation intolerant, and have more PPI than other genes—all features suggesting extreme dosage sensitivity. The results of the current study indicate that autism susceptibility genes display unique radiation and conservation patterns, which may be a reflection of the major transitions in nervous system evolution that were occurring in early animals and which are still foundational in brain development today.

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来源期刊
Autism Research
Autism Research 医学-行为科学
CiteScore
8.00
自引率
8.50%
发文量
187
审稿时长
>12 weeks
期刊介绍: AUTISM RESEARCH will cover the developmental disorders known as Pervasive Developmental Disorders (or autism spectrum disorders – ASDs). The Journal focuses on basic genetic, neurobiological and psychological mechanisms and how these influence developmental processes in ASDs.
期刊最新文献
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