Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits.

ABSTRACT: Pleiotropy, a phenomenon of multiple phenotypic effects of the same genetic alteration, is one of the most important features of genotype-to-phenotype networks. Over the last century, biologists have actively debated the prevalence, mechanisms, and consequences of pleiotropy. In this work, we employed data on genotype-to-phenotype associations from the Human Phenotype Ontology and Mouse Genome Database, as well as genome-wide associations from the UK Biobank and FinnGen cohorts to investigate the similarities and dissimilarities in the patterns of pleiotropy between species and different trait types (i.e. Mendelian traits and complex traits). We found that the pleiotropic effects of genes correlate well between species but have a much weaker correlation when comparing different types of tr

SUBMITTER: Barbitoff YA 

PROVIDER: S-EPMC12534788 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature