Rogan P K, Schneider T D
Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033, USA.
Hum Mutat. 1995;6(1):74-6. doi: 10.1002/humu.1380060114.
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.
预测人类剪接位点中核苷酸取代的影响一直基于共有序列分析。我们使用了一种序列保守性和碱基频率的图形表示法——序列标识，来证明人错配修复蛋白2（一种与家族性非息肉病性结直肠癌相关的基因）的剪接受体中的一个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，该研究表明这种取代是一种基因多态性。基于信息论的序列标识是定量的，并且在检测真正的突变方面比相应的剪接受体共有序列更敏感。信息分析可能潜在地用于区分其他类型转录、翻译或蛋白质编码基序中的多态性和突变。
