Are splicing mutations the most frequent cause of hereditary disease?

被引：272

作者：

López-Bigas, N

Audit, B

Ouzounis, C

Parra, G

Guigó, R

机构：

[1] EMBL Cambridge Outstn, European Bioinformat Inst, Computat Genom Grp, Cambridge CB10 1SD, England

[2] Uiv Pompeu Fabra, Ctr Regul Genom Barcelona, Inst Municipal Invest Med, Grp Rec Informat Biomed, Barcelona, Catalonia, Spain

来源：

FEBS LETTERS | 2005年 / 579卷 / 09期

基金：

英国医学研究理事会;

关键词：

splicing mutations; hereditary diseases; mathematical model;

D O I：

10.1016/j.febslet.2005.02.047

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1900 / 1903

页数：4

共 20 条

[1] Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients -: art. no. e82 [J].