Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum.

ABSTRACT: Huntingtin is a large HEAT repeat protein first identified in humans, where a polyglutamine tract expansion near the amino terminus causes a gain-of-function mechanism that leads to selective neuronal loss in Huntington's disease (HD). Genetic evidence in humans and knock-in mouse models suggests that this gain-of-function involves an increase or deregulation of some aspect of huntingtin's normal function(s), which remains poorly understood. As huntingtin shows evolutionary conservation, a powerful approach to discovering its normal biochemical role(s) is to study the effects caused by its deficiency in a model organism with a short life-cycle that comprises both cellular and multicellular developmental stages. To facilitate studies aimed at detailed knowledge of huntingtin's normal functi

SUBMITTER: Myre MA 

PROVIDER: S-EPMC3084204 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature