title: OrthoDisease: tracking disease gene orthologs across 100 species.
abstract: Orthology is one of the most important tools available to modern biology, as it allows making inferences from easily studied model systems to much less tractable systems of interest, such as ourselves. This becomes important not least in the study of genetic diseases. We here review work on the orthology of disease-associated genes and also present an updated version of the InParanoid-based disease orthology database and web site OrthoDisease, with 14-fold increased species coverage since the previous version. Using this resource, we survey the taxonomic distribution of orthologs of human genes involved in different disease categories. The hypothesis that paralogs can mask the effect of deleterious mutations predicts that known heritable disease genes should have fewer close paralogs. We found large-scale support for this hypothesis as significantly fewer duplications were observed for disease genes in the OrthoDisease ortholog groups.
authors.affiliation: Stockholm Bioinformatics Center, Department of Biochemistry and Biophysics, Stockholm University, Albanova, 10691 Stockholm, Sweden.
authors.forename: Kristoffer
authors.initials: K
authors.lastname: Forslund
authors.forename: Fabian
authors.initials: F
authors.lastname: Schreiber
authors.forename: Nattaphon
authors.initials: N
authors.lastname: Thanintorn
authors.forename: Erik L L
authors.initials: EL
authors.lastname: Sonnhammer
mesh_terms: D000818:Animals; D030541:Databases, Genetic; D004194:Disease / Q000145:classification / Q000235:genetics*; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D016678:Genome; D006801:Humans; D010802:Phylogeny; D012984:Software; D013045:Species Specificity