title: Highly consistent patterns for inherited human diseases at the molecular level.
abstract: Over 1600 mammalian genes are known to cause an inherited disorder, when subjected to one or more mutations. These disease genes represent a unique resource for the identification and quantification of relationships between phenotypic attributes of a disease and the molecular features of the associated disease genes, including their ascribed annotated functional classes and expression patterns. Such analyses can provide a more global perspective and a deeper understanding of the probable causes underlying human hereditary diseases. In this perspective and critical view of disease genomics, we present a comparative analysis of genes reported to cause inherited diseases in humans in terms of their causative effects on physiology, their genetics and inheritance modes, the functional processes they are involved in and their expression profiles across a wide spectrum of tissues. Our analysis reveals that there are more extensive correlations between these attributes of genetic disease genes than previously appreciated. For instance, the functional pattern of genes causing dominant and recessive diseases is markedly different. Also, the function of the genes and their expression correlate with the type of disease they cause when mutated. The results further indicate that a comparative genomics approach for the analysis of genes linked to human genetic diseases will facilitate the elucidation of the underlying molecular and cellular mechanisms.
authors.affiliation: Genome Bioinformatics Laboratory, Center for Genomic Regulation, Universitat Pompeu Fabra, Pg. Maritim de la Barceloneta 37-49, E-08003, Barcelona, Spain. nuria.lopez@crg.es
authors.forename: Núria
authors.initials: N
authors.lastname: López-Bigas
authors.forename: Benjamin J
authors.initials: BJ
authors.lastname: Blencowe
authors.forename: Christos A
authors.initials: CA
authors.lastname: Ouzounis
mesh_terms: D015415:Biomarkers / Q000032:analysis; D020869:Gene Expression Profiling / Q000379:methods*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D008967:Molecular Biology / Q000379:methods; D010363:Pattern Recognition, Automated; D010506:Periodicals as Topic; D020543:Proteome / Q000145:classification* / Q000235:genetics*; D013223:Statistics as Topic
chemical_list: D015415:Biomarkers; D020543:Proteome