Are splicing mutations the most frequent cause of hereditary disease?

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 a...

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Bibliographic Details
Published in:FEBS letters 2005-03, Vol.579 (9), p.1900-1903
Main Authors: López-Bigas, Núria, Audit, Benjamin, Ouzounis, Christos, Parra, Genís, Guigó, Roderic
Format: Article
Language:English
Subjects:
Amino Acid Substitution - genetics
Biochemistry, Molecular Biology
Genetic Diseases, Inborn - genetics
Genomics
Hereditary diseases
Humans
Life Sciences
Mathematical model
Models, Genetic
Point Mutation - genetics
RNA Splicing - genetics
Splicing mutations
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Summary: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.
ISSN:0014-5793
1873-3468
DOI:10.1016/j.febslet.2005.02.047