Cryptic splicing: common pathological mechanisms involved in male infertility and neuronal diseases.
Cryptic splicing: common pathological mechanisms involved in male infertility and neuronal diseases.
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DOI：
10.1080/15384101.2021.2015672
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发表时间：
2022-03
期刊：
影响因子：
--
通讯作者：
Elliott DJ
中科院分区：
文献类型：
--
作者：
Aldalaqan S;Dalgliesh C;Luzzi S;Siachisumo C;Reynard LN;Ehrmann I;Elliott DJ
高水平的转录和选择性剪接是睾丸中基因表达的公认标志，并且主要由减数分裂中的细胞驱动。正因为如此，细胞周期的雄性减数分裂阶段通常被视为具有相对允许基因表达的环境。在这篇综述中，我们强调了最近的研究结果，确定RNA结合蛋白RBMXL2作为必要的男性减数分裂。RBMXL2作为“转录组的监护人”发挥作用，其保护免受会破坏基因表达的异常（或“隐蔽”）剪接位点的使用。这一新发现的减数分裂过程中的保护作用与一个更广泛的领域相联系，该领域研究了保护神经元免受肌萎缩侧索硬化症和阿尔茨海默病影响的隐蔽剪接控制机制。我们讨论了减数分裂过程中抑制隐蔽剪接模式的机制是如何进化的，以及为什么它可能对精子产生和男性生育力至关重要。
High levels of transcription and alternative splicing are recognized hallmarks of gene expression in the testis and largely driven by cells in meiosis. Because of this, the male meiosis stage of the cell cycle is often viewed as having a relatively permissive environment for gene expression. In this review, we highlight recent findings that identify the RNA binding protein RBMXL2 as essential for male meiosis. RBMXL2 functions as a “guardian of the transcriptome” that protects against the use of aberrant (or “cryptic”) splice sites that would disrupt gene expression. This newly discovered protective role during meiosis links with a wider field investigating mechanisms of cryptic splicing control that protect neurons from amyotrophic lateral sclerosis and Alzheimer’s disease. We discuss how the mechanism repressing cryptic splicing patterns during meiosis evolved, and why it may be essential for sperm production and male fertility.
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