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首页> 外文期刊>Human mutation >The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1
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The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1

机译：乳酸性酸中毒肌病患者由ISCU内含子突变引起的有缺陷的剪接被PTBP1抑制，但可以被IGF2BP1抑制。

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摘要

Hereditary myopathy with lactic acidosis (HML) is caused by an intron mutation in the iron-sulfur cluster assembly gene ISCU, which leads to the activation of cryptic splice sites and the retention of part of intron 4. This incorrect splicing is more pronounced in muscle than in other tissues, resulting in a muscle-specific phenotype. In this study, we identified five nuclear factors that interact with the sequence harboring the mutation and analyzed their effect on the splicing of the ISCU gene. The identification revealed three splicing factors, SFRS14, RBM39, and PTBP1, and two additional RNA binding factors, matrin 3 (MATR3) and IGF2BP1. IGF2BP1 showed a preference for the mutant sequence, whereas the other factors showed similar affinity for both sequences. PTBP1 was found to repress the defective splicing of ISCU, resulting in a drastic loss of mutant transcripts. In contrast, IGF2BP1 and RBM39 shifted the splicing ratio toward the incorrect splice form.
机译：乳酸性酸中毒（HML）的遗传性肌病是由铁硫簇装配基因ISCU中的内含子突变引起的，该突变导致隐密剪接位点的激活和部分内含子4的保留。这种不正确的剪接在肌肉中更为明显与其他组织相比，会产生特定于肌肉的表型。在这项研究中，我们确定了五个与隐藏突变序列相互作用的核因子，并分析了它们对ISCU基因剪接的影响。鉴定显示了三个剪接因子，SFRS14，RBM39和PTBP1，以及两个其他RNA结合因子，matrin 3（MATR3）和IGF2BP1。 IGF2BP1显示出对突变序列的偏好，而其他因素显示出对两个序列的相似亲和力。发现PTBP1抑制ISCU的有缺陷的剪接，导致突变体转录本的大量丢失。相比之下，IGF2BP1和RBM39将拼接比例移向错误的拼接形式。

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