Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET, Universidad Nacional de Córdoba, 5016, Córdoba, Argentina.
Cátedra de Biología Celular, Facultad de Odontología, Universidad Nacional de Córdoba, 5000, Córdoba, Argentina.
Cell Mol Life Sci. 2021 Nov;78(21-22):7043-7060. doi: 10.1007/s00018-021-03945-0. Epub 2021 Oct 11.
Several X-linked genes are involved in neuronal differentiation and may contribute to the generation of sex dimorphisms in the brain. Previous results showed that XX hypothalamic neurons grow faster, have longer axons, and exhibit higher expression of the neuritogenic gene neurogenin 3 (Ngn3) than XY before perinatal masculinization. Here we evaluated the participation of candidate X-linked genes in the development of these sex differences, focusing mainly on Kdm6a, a gene encoding for an H3K27 demethylase with functions controlling gene expression genome-wide. We established hypothalamic neuronal cultures from wild-type or transgenic Four Core Genotypes mice, a model that allows evaluating the effect of sex chromosomes independently of gonadal type. X-linked genes Kdm6a, Eif2s3x and Ddx3x showed higher expression in XX compared to XY neurons, regardless of gonadal sex. Moreover, Kdm6a expression pattern with higher mRNA levels in XX than XY did not change with age at E14, P0, and P60 in hypothalamus or under 17β-estradiol treatment in culture. Kdm6a pharmacological blockade by GSK-J4 reduced axonal length only in female neurons and decreased the expression of neuritogenic genes Neurod1, Neurod2 and Cdk5r1 in both sexes equally, while a sex-specific effect was observed in Ngn3. Finally, Kdm6a downregulation using siRNA reduced axonal length and Ngn3 expression only in female neurons, abolishing the sex differences observed in control conditions. Altogether, these results point to Kdm6a as a key mediator of the higher axogenesis and Ngn3 expression observed in XX neurons before the critical period of brain masculinization.
一些 X 连锁基因参与神经元分化,并可能导致大脑性别二态性的产生。先前的研究结果表明,在围产期雄性化之前,XX 下丘脑神经元的生长速度更快,轴突更长,并且神经发生基因 neurogenin 3(Ngn3)的表达更高。在这里,我们评估了候选 X 连锁基因在这些性别差异发育中的参与情况,主要集中在编码组蛋白 H3K27 去甲基化酶的基因 Kdm6a 上,该基因具有控制全基因组基因表达的功能。我们从野生型或转基因 Four Core Genotypes 小鼠中建立了下丘脑神经元培养物,这是一种允许独立于性腺类型评估性染色体效应的模型。X 连锁基因 Kdm6a、Eif2s3x 和 Ddx3x 在 XX 神经元中的表达高于 XY 神经元,无论性腺性别如何。此外,Kdm6a 在 XX 中的表达模式与 XX 比 XY 更高的 mRNA 水平并不随 E14、P0 和 P60 下丘脑的年龄或培养物中 17β-雌二醇的处理而改变。Kdm6a 的药理学阻断剂 GSK-J4 仅在雌性神经元中减少轴突长度,并同等降低两性的神经发生基因 Neurod1、Neurod2 和 Cdk5r1 的表达,而在 Ngn3 中观察到性别特异性效应。最后,使用 siRNA 下调 Kdm6a 仅减少了雌性神经元的轴突长度和 Ngn3 表达,消除了在对照条件下观察到的性别差异。总之,这些结果表明 Kdm6a 是 XX 神经元在大脑雄性化关键期之前观察到的更高轴突发生和 Ngn3 表达的关键介质。