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小鼠肌肉型磷酸果糖激酶基因内含子10和11的序列分析,特别涉及外显子跳跃。

Sequence analysis of mouse muscle-type phosphofructokinase gene introns 10 and 11 with special reference to the exon skipping.

作者信息

Yamasaki Tomoyuki, Nakajima Hiromu, Hamaguchi Tomoya, Tomita Koji, Kono Norio, Yamada Kazuya, Noguchi Tamio

机构信息

Second Department of Internal Medicine, Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.

出版信息

Res Commun Mol Pathol Pharmacol. 2004;115-116:97-101.

Abstract

To elucidate physiological relevance of the skipping of exon 11 in muscle-type phosphofructokinase (PFK-M) transcripts, we partially cloned and analyzed the cDNA and the genomic fragment of mouse PFK-M. In RT-PCR analysis using a pair of primers which carry the region corresponding to human exon 11 in between, any minor transcript without exon 11 was not detected. Partial sequencing analysis of mouse PFK-M gene revealed that the junctions of intron 10 of human gene were both less identical to the consensus sequences than those of mouse gene, but that there was no appreciable difference in the junctions in intron 11 between mouse and human. These results suggest that the skipping of exon 11 in PFK-M gene transcripts would be found mainly in human. Although further investigation would be required to understand the mechanisms and physiological significance of exon-skipping, the exon-skipping in PFK-M transcripts would be unlikely to have the physiological significance.

摘要

为阐明肌肉型磷酸果糖激酶(PFK-M)转录本中外显子11跳跃的生理相关性,我们对小鼠PFK-M的cDNA和基因组片段进行了部分克隆和分析。在使用一对中间带有对应于人外显子11区域的引物进行的逆转录聚合酶链反应(RT-PCR)分析中,未检测到任何不含外显子11的次要转录本。小鼠PFK-M基因的部分测序分析表明,人类基因内含子10的连接点与共有序列的一致性均低于小鼠基因,但小鼠和人类内含子11的连接点没有明显差异。这些结果表明,PFK-M基因转录本中外显子11的跳跃主要在人类中发现。尽管需要进一步研究以了解外显子跳跃的机制和生理意义,但PFK-M转录本中的外显子跳跃不太可能具有生理意义。

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