Article
Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.
Human molecular genetics - 15 Aug 2013
Lee Jong-Min, Galkina Ekaterina I, Levantovsky Rachel M, Fossale Elisa, Anne Anderson Mary, Gillis Tammy, Srinidhi Mysore Jayalakshmi, Coser Kathryn R, Shioda Toshi, Zhang Bin, Furia Matthew D, Derry Jonathan, Kohane Isaac S, Seong Ihn Sik, Wheeler Vanessa C, Gusella James F, MacDonald Marcy E
Abstract excerpt
In Huntington's disease (HD), the size of the expanded HTT CAG repeat mutation is the primary driver of the processes that determine age at onset of motor symptoms. However, correlation of cellular biochemical parameters also extends across the normal repeat range, supporting the view that the CAG repeat represents a functional polymorphism with dominant effects determined by the longer allele. A central...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.