How prevalent is functional alternative splicing in the human genome?
How prevalent is functional alternative splicing in the human genome?
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DOI：
10.1016/j.tig.2003.12.004
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发表时间：
2004-02-01
影响因子：
11.4
通讯作者：
Ast, G
中科院分区：
文献类型：
--
作者：
Sorek, R;Shamir, R;Ast, G
对EST和cDNA与基因组DNA的比较分析预测，人类基因中存在高频率的选择性剪接。然而，关于这些预测的剪接变异体中有多少是功能的，有多少是异常剪接(或“噪音”)的结果，仍存在争议。为了解决这个问题，我们比较了在人类和小鼠之间保守的选择性剪接盒外显子和在小鼠基因组中不保守的EST预测的盒外显子。推测，保守的外显子跳跃事件代表了功能选择性剪接。我们发现，保守的(功能)盒式磁带外显子在大小、重复内容和它们对蛋白质的影响方面具有独特的特征。相比之下，大多数非保守的盒式磁带外显子并不具有这些特征。我们得出结论，在EST数据库中发现的很大一部分盒式外显子不起作用，可能是异常的剪接而不是调节的剪接造成的。
Comparative analyses of ESTs and cDNAs with genomic DNA predict a high frequency of alternative splicing in human genes. However, there is an ongoing debate as to how many of these predicted splice variants are functional and how many are the result of aberrant splicing (or 'noise'). To address this question, we compared alternatively spliced cassette exons that are conserved between human and mouse with EST-predicted cassette exons that are not conserved in the mouse genome. Presumably, conserved exon-skipping events represent functional alternative splicing. We show that conserved (functional) cassette exons possess unique characteristics in size, repeat content and in their influence on the protein. By contrast, most non-conserved cassette exons do not share these characteristics. We conclude that a significant portion of cassette exons evident in EST databases is not functional, and might result from aberrant rather than regulated splicing.