title: Effect of genetic regions on the correlation between single point mutation variability and morbidity.
abstract: Cross-species sequence comparisons have suggested that cross-species sequence variability is correlated with functionality. The goal of this study was to extend this observation at different genetic regions, focusing on the morbidity of Single Nucleotide Polymorphisms (SNPs). A set of deleterious SNPs was compared to a set of neutral SNPs. Both samples were stratified according to the location of the SNPs at different genetic regions. Deleterious SNPs were observed to be less variable across species than neutral SNPs, these differences being significant for missense mutations (p=1.1 × 10(-9)), SNPs in introns (p=6.4 × 10(-3)), and SNPs in unknown regions (p=8 × 10(-4)).
authors.affiliation: Department of ESAII, Center for Biomedical Engineering Research, Technical University of Catalonia (UPC), Barcelona, Gargallo, 5, 08028 Barcelona, Spain. helena.brunel@upc.edu
authors.forename: Helena
authors.initials: H
authors.lastname: Brunel
authors.forename: Joan-Josep
authors.initials: JJ
authors.lastname: Gallardo-Chacón
authors.forename: Montserrat
authors.initials: M
authors.lastname: Vallverdú
authors.forename: Pere
authors.initials: P
authors.lastname: Caminal
authors.forename: Alexandre
authors.initials: A
authors.lastname: Perera
mesh_terms: D000818:Animals; D030541:Databases, Genetic; D006801:Humans; D007438:Introns; D008957:Models, Genetic; D020125:Mutation, Missense; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D013045:Species Specificity; D018709:Statistics, Nonparametric