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首页> 外文期刊>Human mutation >Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts
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Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts

机译：在牛基因中由C.1248 + 5g> A的二出口跳跃（外显子12和13）的分子基础：研究成纤维细胞中的Oxct1转录物中间体的研究

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The molecular basis of simultaneous two-exon skipping induced by a splice-site mutation has yet to be completely explained. The splice donor site mutation c.1248+5g>a (IVS13) of the OXCT1 gene resulted predominantly in skipping of exons 12 and 13 in fibroblasts from a patient (GS23) with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. We compared heteronuclear RNA (hnRNA) intermediates between controls' and GS23's fibroblasts. Our strategy was to use RT-PCR of hnRNA to detect the presence or absence of spliced exon clusters in RNA intermediates (SECRIs) comprising sequential exons. Our initial hypothesis was that a SECRI comprising exons 12 and 13 was formed first followed by skipping of this SECRI in GS23 cells. However, such a pathway was revealed to be not a major one. Hence, we compared the intron removal of SCOT transcript between controls and GS23. In controls, intron 11 was the last intron to be spliced and the removal of intron 12 was also rather slow and occurred after the removal of intron 13 in a major pathway. However, the mutation in GS23 cells resulted in retention of intron 13, thus causing the retention of introns 12 and 11. This "splicing paralysis" may be solved by skipping the whole intron 11-exon 12-intron 12-exon 13-mutated intron 13, resulting in skipping of exons 12 and 13. ? 2012 Wiley Periodicals, Inc.
机译：通过接头 - 位点突变诱导的同时两种外显子跳跃的分子基础尚未得到完全解释。羟基烯基因的剪接供体位点突变C.1248 + 5g> A（IVS13）主要导致来自患者（GS23）的成纤维细胞中的外显子12和13，用琥珀酰基 - COA：3-酮酸COA转移酶（SCOT）缺乏。我们比较了对照组和GS23的成纤维细胞之间的异核RNA（HNRNA）中间体。我们的策略是使用HNRNA的RT-PCR来检测包含顺序外显子的RNA中间体（秘密）中拼接外显子簇的存在或不存在。我们的初始假设是首先形成包含外显子12和13的分泌，然后在GS23细胞中跳过该方法。然而，这种途径被揭示为不是主要的途径。因此，我们比较了对照和GS23之间的苏格拉斯成绩单的内含子去除。在对照中，Intron 11是待剪裁的最后一个内含子，除内含子12也相当慢，并在大途径中除去内含子13后发生。然而，GS23细胞中的突变导致内含子13，从而导致内含子12和11的保留。这种“剪接瘫痪”可以通过跳过整个内含子11-外部12-内外12-外突变的内含子13，导致外显子12和13的跳跃。 2012 Wiley期刊，Inc。

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