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

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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: 10.1186/1471-2164-7-165
http://hdl.handle.net/10230/16419
To cite or link this document: http://hdl.handle.net/10230/16419
dc.contributor.author Furney, Simon J.
dc.contributor.author Albà Soler, Mar
dc.contributor.author López Bigas, Núria
dc.date.accessioned 2012-05-09T07:32:11Z
dc.date.available 2012-05-09T07:32:11Z
dc.date.issued 2006
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: 10.1186/1471-2164-7-165
dc.identifier.issn 1471-2164
dc.identifier.uri http://hdl.handle.net/10230/16419
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. Results: 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.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof BMC Genomics. 2006; 7: 165
dc.rights (c) 2006 Furney et al. Creative Commons Attribution License
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 mutations
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-7-165
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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