Article
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Proceedings of the National Academy of Sciences of the United States of America - 26 Jan 2021
Rauscher Robert, Bampi Giovana B, Guevara-Ferrer Marta, Santos Leonardo A, Joshi Disha, Mark David, Strug Lisa J, Rommens Johanna M, Ballmann Manfred, Sorscher Eric J, Oliver Kathryn E, Ignatova Zoya
Abstract excerpt
Epistasis refers to the dependence of a mutation on other mutation(s) and the genetic context in general. In the context of human disorders, epistasis complicates the spectrum of disease symptoms and has been proposed as a major contributor to variations in disease outcome. The nonadditive relationship between mutations and the lack of complete understanding of the underlying physiological effects limit our...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.