Yabas Mehmet, Elliott Hannah, Hoyne Gerard F
Department of Immunology and Infectious Disease, the John Curtin School of Medical Research, the Australian National University, Acton 2601, Australia.
Department of Genetics and Bioengineering, Faculty of Engineering, Trakya University, Edirne 22030, Turkey.
Int J Mol Sci. 2015 Dec 22;17(1):3. doi: 10.3390/ijms17010003.
Alternative splicing of pre-mRNA helps to enhance the genetic diversity within mammalian cells by increasing the number of protein isoforms that can be generated from one gene product. This provides a great deal of flexibility to the host cell to alter protein function, but when dysregulation in splicing occurs this can have important impact on health and disease. Alternative splicing is widely used in the mammalian immune system to control the development and function of antigen specific lymphocytes. In this review we will examine the splicing of pre-mRNAs yielding key proteins in the immune system that regulate apoptosis, lymphocyte differentiation, activation and homeostasis, and discuss how defects in splicing can contribute to diseases. We will describe how disruption to trans-acting factors, such as heterogeneous nuclear ribonucleoproteins (hnRNPs), can impact on cell survival and differentiation in the immune system.
前体mRNA的可变剪接通过增加可从一种基因产物产生的蛋白质异构体数量，有助于提高哺乳动物细胞内的遗传多样性。这为宿主细胞改变蛋白质功能提供了很大的灵活性，但当剪接失调时，这可能对健康和疾病产生重要影响。可变剪接在哺乳动物免疫系统中广泛用于控制抗原特异性淋巴细胞的发育和功能。在这篇综述中，我们将研究产生免疫系统中调节细胞凋亡、淋巴细胞分化、激活和稳态的关键蛋白质的前体mRNA的剪接，并讨论剪接缺陷如何导致疾病。我们将描述对反式作用因子（如异质性核糖核蛋白（hnRNP））的破坏如何影响免疫系统中的细胞存活和分化。
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