Are splicing mutations the most frequent cause of hereditary disease?
Are splicing mutations the most frequent cause of hereditary disease?
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DOI：
10.1016/j.febslet.2005.02.047
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发表时间：
2005-03-28
期刊：
影响因子：
3.5
通讯作者：
Guigó, R
中科院分区：
文献类型：
--
作者：
López-Bigas, N;Audit, B;Guigó, R
致病点突变被认为主要通过随后氨基酸序列的个体变化发挥作用，这些变化损害蛋白质的正常功能。然而，点突变可以通过改变基因的剪接模式产生更显著的影响。在这里，我们描述了一种方法来估计剪接突变的整体重要性。这种方法考虑了已知与疾病有关的一整套基因，并表明与目前的假设相反，许多导致疾病的突变实际上可能会影响基因的剪接模式。(c)2005年欧洲生物化学学会联合会。由Elsevier BY出版。All rights reserved.
Disease-causing point mutations are assumed to act predominantly through subsequent individual changes in the amino acid sequence that impair the normal function of proteins. However, point mutations can have a more dramatic effect by altering the splicing pattern of the gene. Here, we describe an approach to estimate the overall importance of splicing mutations. This approach takes into account the complete set of genes known to be involved in disease and suggest that, contrary to current assumptions, many mutations causing disease may actually be affecting the splicing pattern of the genes. (c) 2005 Federation of European Biochemical Societies. Published by Elsevier BY. All rights reserved.