Tilliole Pierre, Fix Simon, Godin Juliette D
Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France.
Centre National de la Recherche Scientifique, CNRS, UMR7104, Illkirch, France.
Front Mol Neurosci. 2024 Jul 17;17:1411639. doi: 10.3389/fnmol.2024.1411639. eCollection 2024.
Heterogeneous nuclear ribonucleoproteins (hnRNPs) constitute a family of multifunctional RNA-binding proteins able to process nuclear pre-mRNAs into mature mRNAs and regulate gene expression in multiple ways. They comprise at least 20 different members in mammals, named from A () to U (). Many of these proteins are components of the spliceosome complex and can modulate alternative splicing in a tissue-specific manner. Notably, while genes encoding hnRNPs exhibit ubiquitous expression, increasing evidence associate these proteins to various neurodevelopmental and neurodegenerative disorders, such as intellectual disability, epilepsy, microcephaly, amyotrophic lateral sclerosis, or dementias, highlighting their crucial role in the central nervous system. This review explores the evolution of the hnRNPs family, highlighting the emergence of numerous new members within this family, and sheds light on their implications for brain development.
不均一核核糖核蛋白(hnRNPs)构成了一个多功能RNA结合蛋白家族,能够将核内前体mRNA加工成成熟mRNA,并以多种方式调节基因表达。在哺乳动物中,它们至少由20个不同的成员组成,命名从A()到U()。这些蛋白中的许多是剪接体复合物的组成部分,并且能够以组织特异性方式调节可变剪接。值得注意的是,虽然编码hnRNPs的基因呈现普遍表达,但越来越多的证据将这些蛋白与各种神经发育和神经退行性疾病联系起来,如智力残疾、癫痫、小头畸形、肌萎缩侧索硬化症或痴呆症,这突出了它们在中枢神经系统中的关键作用。本综述探讨了hnRNPs家族的进化,强调了该家族中众多新成员的出现,并阐明了它们对脑发育的影响。