USING INFORMATION-CONTENT AND BASE FREQUENCIES TO DISTINGUISH MUTATIONS FROM GENETIC POLYMORPHISMS IN SPLICE JUNCTION RECOGNITION SITES
USING INFORMATION-CONTENT AND BASE FREQUENCIES TO DISTINGUISH MUTATIONS FROM GENETIC POLYMORPHISMS IN SPLICE JUNCTION RECOGNITION SITES
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DOI：
10.1002/humu.1380060114
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发表时间：
1995-01-01
期刊：
影响因子：
3.9
通讯作者：
SCHNEIDER, TD
中科院分区：
文献类型：
--
作者：
ROGAN, PK;SCHNEIDER, TD
预测人类剪接位点中核苷酸取代的影响是基于对共有序列的分析。我们使用了序列保守性和碱基频率的图形表示，即序列标志，来证明hMSH 2（一种与家族性非息肉病性结肠癌相关的基因）剪接受体的变化可能不会降低剪接效率。这证实了一项群体遗传学研究，该研究表明这种替代是一种遗传多态性。基于信息论的序列标志是定量的，并且比相应的剪接受体共有序列更敏感，用于检测真正的突变。信息分析可能潜在地用于区分多态性与其他类型的转录、翻译或蛋白质编码基序中的突变。(C)1995 Wiley-Liss，Inc.
Predicting the effects of nucleotide substitutions in human splice sites has been based on analysis of consensus sequences. We used a graphic representation of sequence conservation and base frequency, the sequence logo, to demonstrate that a change in a splice acceptor of hMSH2 (a gene associated with familial nonpolyposis colon cancer) probably does not reduce splicing efficiency. This confirms a population genetic study that suggested that this substitution is a genetic polymorphism. The information theory based sequence logo is quantitative and more sensitive than the corresponding splice acceptor consensus sequence for detection of true mutations, Information analysis may potentially be used to distinguish polymorphisms from mutations in other types of transcriptional, translational, or protein coding motifs. (C) 1995 Wiley-Liss, Inc.