Differences in the evolutionary history of disease genes affected by dominant or recessive mutations

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• dc.contributor.author Furney, Simon J.ca
• dc.contributor.author Albà Soler, Marca
• dc.contributor.author López Bigas, Núriaca
• dc.date.accessioned 2012-05-09T07:32:11Z
• dc.date.available 2012-05-09T07:32:11Z
• dc.date.issued 2006ca
• dc.description.abstract Background: Global analyses of human disease genes by computational methods have yielded important advances in the understanding of human diseases. Generally these studies have treated the group of disease genes uniformly, thus ignoring the type of disease-causing mutations (dominant or recessive). In this report we present a comprehensive study of the evolutionary history of autosomal disease genes separated by mode of inheritance./nResults: We examine differences in protein and coding sequence conservation between dominant and recessive human disease genes. Our analysis shows that disease genes affected by dominant mutations are more conserved than those affected by recessive mutations. This could be a consequence of the fact that recessive mutations remain hidden from selection while heterozygous. Furthermore, we employ functional annotation analysis and investigations into disease severity to support this hypothesis. Conclusion: This study elucidates important differences between dominantly- and recessively-acting disease genes in terms of protein and DNA sequence conservation, paralogy and essentiality. We propose that the division of disease genes by mode of inheritance will enhance both understanding of the disease process and prediction of candidate disease genes in the future.
• dc.format.mimetype application/pdfca
• dc.identifier.citation Furney SJ, Albà MM, López-Bigas N. Differences in the evolutionary history of disease genes affected by dominant or recessive mutations. BMC Genomics. 2006;7:165. DOI: 10.1186/1471-2164-7-165ca
• dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-7-165
• dc.identifier.issn 1471-2164ca
• dc.identifier.uri http://hdl.handle.net/10230/16419
• dc.language.iso engca
• dc.publisher BioMed Centralca
• dc.relation.ispartof BMC Genomics. 2006;7:165
• dc.rights © 2006 Furney et al. Creative Commons Attribution Licenseca
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/2.0/
• dc.subject.other Malalties congènites
• dc.subject.other Evolució humana
• dc.subject.other Genètica evolutiva
• dc.title Differences in the evolutionary history of disease genes affected by dominant or recessive mutationsca
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/publishedVersion