Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University and Perron Institute, Perth, Australia.
J Neuromuscul Dis. 2020;7(2):77-95. doi: 10.3233/JND-190431.
The DMD gene is the largest in the human genome, with a total intron content exceeding 2.2Mb. In the decades since DMD was discovered there have been numerous reported cases of pseudoexons (PEs) arising in the mature DMD transcripts of some individuals, either as the result of mutations or as low-frequency errors of the spliceosome. In this review, I collate from the literature 58 examples of DMD PEs and examine the diversity and commonalities of their features. In particular, I note the high frequency of PEs that arise from deep intronic SNVs and discuss a possible link between PEs induced by distal mutations and the regulation of recursive splicing.
DMD 基因是人类基因组中最大的基因，其内含子总含量超过 2.2Mb。自 DMD 被发现以来的几十年中，已有许多报道称，一些个体的成熟 DMD 转录本中出现了假外显子（PEs），这些 PEs 是由于突变或剪接体的低频错误所致。在这篇综述中，我从文献中整理了 58 个 DMD PEs 的例子，并研究了它们特征的多样性和共性。特别是，我注意到源自深内含子 SNVs 的 PEs 的高频，并讨论了远端突变诱导的 PEs 与递归剪接调控之间可能存在的联系。
