Background One of the most unusual sources of phylogenetically restricted genes is the molecular domestication of transposable elements into a host genome as functional genes. Although these kinds of events are sometimes at the core of key macroevolutionary changes, their origin and organismal function are generally poorly understood. Results Here, we identify several previously unreported transposable element domestication events in the human and mouse genomes. Among them, we find a remarkable molecular domestication that gave rise to a multigenic family in placental mammals, the Bex/Tceal gene cluster. These genes, which act as hub proteins within diverse signaling pathways, have been associated with neurological features of human patients carrying genomic microdeletions in chromosome X. The Bex/Tceal genes display neural-enriched patterns and are differentially expressed in human neurological disorders, such as autism and schizophrenia. Two different murine alleles of the cluster member Bex3 display morphological and physiopathological brain modifications, such as reduced interneuron number and hippocampal electrophysiological imbalance, alterations that translate into distinct behavioral phenotypes. Conclusions We provide an in-depth understanding of the emergence of a gene cluster that originated by transposon domestication and gene duplication at the origin of placental mammals, an evolutionary process that transformed a non-functional transposon sequence into novel components of the eutherian genome. These genes were integrated into existing signaling pathways involved in the development, maintenance, and function of the CNS in eutherians. At least one of its members, Bex3 , is relevant for higher brain functions in placental mammals and may be involved in human neurological disorders.

中文翻译：

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转座子驯化后产生的 eutherian 基因簇的特征确定 Bex3 与高级神经功能相关

背景系统发育限制基因的最不寻常的来源之一是转座元件作为功能基因进入宿主基因组的分子驯化。尽管这些类型的事件有时是关键宏观进化变化的核心，但它们的起源和有机体功能通常知之甚少。结果在这里，我们确定了人类和小鼠基因组中几个以前未报告的转座因子驯化事件。其中，我们发现了一种显着的分子驯化，它在胎盘哺乳动物中产生了一个多基因家族，即 Bex/Tceal 基因簇。这些基因作为多种信号通路中的枢纽蛋白，与 X 染色体中携带基因组微缺失的人类患者的神经学特征有关。Bex/Tceal 基因显示出神经丰富的模式，并在人类神经系统疾病（如自闭症和精神分裂症）中差异表达。簇成员 Bex3 的两个不同的小鼠等位基因显示出形态学和病理生理学的大脑改变，例如中间神经元数量减少和海马电生理失衡，这些改变转化为不同的行为表型。结论我们深入了解了起源于胎盘哺乳动物起源的转座子驯化和基因复制的基因簇的出现，这是一个将无功能转座子序列转化为真人基因组新成分的进化过程。这些基因被整合到参与发育、维持、和中枢神经系统在 eutherians 中的功能。其成员中至少有一个 Bex3 与胎盘哺乳动物的高级大脑功能有关，并且可能与人类神经系统疾病有关。