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人类基因组中不同基因的启动子共享——以CPNE1和RBM12基因对为例。

Promoter-sharing by different genes in human genome--CPNE1 and RBM12 gene pair as an example.

作者信息

Yang Wanling, Ng Ping, Zhao Minghui, Wong Thomas K F, Yiu Siu-Ming, Lau Yu Lung

机构信息

Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, PR China.

出版信息

BMC Genomics. 2008 Oct 3;9:456. doi: 10.1186/1471-2164-9-456.

Abstract

BACKGROUND

Regulation of gene expression plays important role in cellular functions. Co-regulation of different genes may indicate functional connection or even physical interaction between gene products. Thus analysis on genomic structures that may affect gene expression regulation could shed light on the functions of genes.

RESULTS

In a whole genome analysis of alternative splicing events, we found that two distinct genes, copine I (CPNE1) and RNA binding motif protein 12 (RBM12), share the most 5' exons and therefore the promoter region in human. Further analysis identified many gene pairs in human genome that share the same promoters and 5' exons but have totally different coding sequences. Analysis of genomic and expressed sequences, either cDNAs or expressed sequence tags (ESTs) for CPNE1 and RBM12, confirmed the conservation of this phenomenon during evolutionary courses. The co-expression of the two genes initiated from the same promoter is confirmed by Reverse Transcription-Polymerase Chain Reaction (RT-PCR) in different tissues in both human and mouse. High degrees of sequence conservation among multiple species in the 5'UTR region common to CPNE1 and RBM12 were also identified.

CONCLUSION

Promoter and 5'UTR sharing between CPNE1 and RBM12 is observed in human, mouse and zebrafish. Conservation of this genomic structure in evolutionary courses indicates potential functional interaction between the two genes. More than 20 other gene pairs in human genome were found to have the similar genomic structure in a genome-wide analysis, and it may represent a unique pattern of genomic arrangement that may affect expression regulation of the corresponding genes.

摘要

背景

基因表达调控在细胞功能中起着重要作用。不同基因的协同调控可能表明基因产物之间存在功能联系甚至物理相互作用。因此,对可能影响基因表达调控的基因组结构进行分析有助于揭示基因的功能。

结果

在对可变剪接事件的全基因组分析中,我们发现人类中两个不同的基因,I型共五聚蛋白(CPNE1)和RNA结合基序蛋白12(RBM12),共享最5'端外显子,因此共享启动子区域。进一步分析在人类基因组中鉴定出许多基因对,它们共享相同的启动子和5'端外显子,但编码序列完全不同。对CPNE1和RBM12的基因组和表达序列(cDNA或表达序列标签(EST))进行分析,证实了这种现象在进化过程中的保守性。通过逆转录-聚合酶链反应(RT-PCR)在人和小鼠的不同组织中证实了这两个从同一启动子起始的基因的共表达。还鉴定出CPNE1和RBM12共有的5'非翻译区(5'UTR)区域在多个物种中具有高度的序列保守性。

结论

在人类、小鼠和斑马鱼中均观察到CPNE1和RBM12之间存在启动子和5'UTR共享现象。这种基因组结构在进化过程中的保守性表明这两个基因之间存在潜在的功能相互作用。在全基因组分析中发现人类基因组中还有20多个其他基因对具有类似的基因组结构,这可能代表了一种独特的基因组排列模式,可能影响相应基因的表达调控。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bca4/2568002/216b35c472d7/1471-2164-9-456-1.jpg

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