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Alternative Splicing of Human Height-Related Zinc Finger and BTB Domain-Containing 38 Gene Through Alu Exonization

机译:通过铝外显子化与人类高度相关的锌指和BTB域38基因的选择性剪接

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摘要

Recently, genome-wide association studies have identified a strong association between the ZBTB38 locus and human height. In a functional study, we detected two RT-PCR products of ZBTB38, amplified with primers in exons 7 and 8 from a chondrocyte cell line, C-28/I2. Sequencing revealed that the longer product contained an Alu segment in intron 7 of ZBTB38, which contained a potential splicing acceptor site that likely was used to generate the alternative transcript. Insertion of the Alu segment changed the consensus Kozak sequence of the ZBTB38 transcript, potentially altering translational efficiency. We performed RT-PCR using 16 tissue samples from humans and 8 tissue samples from primates to determine any tissue specificity or evolutionary conservation of the alternative splicing. Although we failed to identify any difference among the tissues, all primate samples expressed only the shorter Alu segment (lacking the transcript), suggesting that the alternative splicing event is hominid primate-specific.
机译:最近,全基因组关联研究已确定ZBTB38基因座与人类身高之间有很强的关联。在一项功能研究中,我们检测到ZBTB38的两个RT-PCR产物,这些产物在软骨细胞系C-28 / I2的外显子7和8中用引物扩增。测序表明,较长的产物在ZBTB38的内含子7中含有一个Alu片段,该片段含有一个潜在的剪接受体位点,该位点很可能被用来生成替代转录本。插入Alu区段改变了ZBTB38转录物的共有Kozak序列,潜在地改变了翻译效率。我们使用人类的16个组织样本和灵长类的8个组织样本进行RT-PCR,以确定替代剪接的任何组织特异性或进化保守性。尽管我们未能鉴定出组织之间的任何差异,但所有灵长类动物样品仅表达较短的Alu片段(缺少转录物),这表明替代的剪接事件是原始的灵长类动物特异性的。

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