Frontiers | hnRNPs: roles in neurodevelopment and implication for brain disorders

IF 3.5 3区医学 Q2 NEUROSCIENCES

Frontiers in Molecular Neuroscience Pub Date : 2024-06-17 DOI:10.3389/fnmol.2024.1411639

Pierre Tilliole, Simon Fix, Juliette D. GODIN

引用次数: 0

Abstract

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 (HNRNP A1) to U (HNRNP 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.

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hnRNPs前沿：在神经发育中的作用及对脑部疾病的影响

异质核核糖核蛋白（hnRNPs）是一个多功能 RNA 结合蛋白家族，能够将核前 mRNA 处理成成熟的 mRNA，并以多种方式调控基因表达。哺乳动物中至少有 20 个不同的成员，从 A（HNRNP A1）到 U（HNRNP U）依次命名。其中许多蛋白是剪接体复合物的组成成分，能以组织特异性的方式调节替代剪接。值得注意的是，虽然编码 hnRNPs 的基因无处不在，但越来越多的证据表明，这些蛋白与各种神经发育和神经退行性疾病有关，如智力障碍、癫痫、小头畸形、肌萎缩性脊髓侧索硬化症或痴呆症等，突显了它们在中枢神经系统中的关键作用。这篇综述探讨了 hnRNPs 家族的进化，强调了该家族中出现的众多新成员，并揭示了它们对大脑发育的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Frontiers in Molecular Neuroscience NEUROSCIENCES-

CiteScore

5.70

自引率

2.10%

发文量

669

审稿时长

14 weeks

期刊介绍： Frontiers in Molecular Neuroscience is a first-tier electronic journal devoted to identifying key molecules, as well as their functions and interactions, that underlie the structure, design and function of the brain across all levels. The scope of our journal encompasses synaptic and cellular proteins, coding and non-coding RNA, and molecular mechanisms regulating cellular and dendritic RNA translation. In recent years, a plethora of new cellular and synaptic players have been identified from reduced systems, such as neuronal cultures, but the relevance of these molecules in terms of cellular and synaptic function and plasticity in the living brain and its circuits has not been validated. The effects of spine growth and density observed using gene products identified from in vitro work are frequently not reproduced in vivo. Our journal is particularly interested in studies on genetically engineered model organisms (C. elegans, Drosophila, mouse), in which alterations in key molecules underlying cellular and synaptic function and plasticity produce defined anatomical, physiological and behavioral changes. In the mouse, genetic alterations limited to particular neural circuits (olfactory bulb, motor cortex, cortical layers, hippocampal subfields, cerebellum), preferably regulated in time and on demand, are of special interest, as they sidestep potential compensatory developmental effects.