PABPN1: molecular function and muscle disease.
PABPN1: molecular function and muscle disease.
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DOI：
10.1111/febs.12294
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发表时间：
2013-09
期刊：
影响因子：
--
通讯作者：
Corbett AH
中科院分区：
文献类型：
--
作者：
Banerjee A;Apponi LH;Pavlath GK;Corbett AH
多聚腺苷酸结合核蛋白1（PABPN1）是一种多聚腺苷酸RNA结合蛋白，在RNA的转录后加工过程中起着关键作用。虽然PABPN1是普遍表达的，并推测有助于控制所有组织中的基因表达，但PABPN1基因的突变会导致眼咽肌营养不良症（OPMD），其中有限的骨骼肌受到影响。OPMD研究领域的一个主要目标是了解为什么普遍表达的基因突变会导致肌肉特异性疾病。PABPN1在控制RNA转录物的poly（A）尾长度方面发挥着有据可查的作用，但通过利用各种无偏筛选以及模式生物的研究，新的功能正在出现。本次审查涉及：（1）PABPN 1的分子功能，结合最近的发现，揭示了新的细胞功能的PABPN 1和（2）的方法，被用来了解分子缺陷，源于表达突变的PABPN 1。该研究领域的长期目标是了解PABPN1在肌肉中的关键分子功能以及突变PABPN1病理后果的机制。有了这些信息，研究人员可以寻求开发治疗方法，以提高OPMD患者的生活质量。
The polyadenosine RNA binding protein, polyadenylate-binding nuclear protein 1 (PABPN1), plays key roles in post-transcriptional processing of RNA. Although PABPN1 is ubiquitously expressed and presumably contributes to control of gene expression in all tissues, mutation of the PABPN1 gene causes the disease Oculopharyngeal Muscular Dystrophy (OPMD), in which a limited set of skeletal muscles are effected. A major goal in the field of OPMD research is to understand why mutation of a ubiquitously expressed gene leads to a muscle-specific disease. PABPN1 plays a well-documented role in controlling the poly(A) tail length of RNA transcripts but new functions are emerging through studies that exploit a variety of unbiased screens as well as model organisms. This review addresses: (1) the molecular function of PABPN1 incorporating recent findings that reveal novel cellular functions for PABPN1 and (2) the approaches that are being used to understand the molecular defects that stem from expression of mutant PABPN1. The long-term goal in this field of research is to understand the key molecular functions of PABPN1 in muscle as well as the mechanisms that underlie the pathological consequences of mutant PABPN1. Armed with this information, researchers can seek to develop therapeutic approaches to enhance the quality of life for patients afflicted with OPMD.
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