Article
A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice.
G3 (Bethesda, Md.) - 3 Oct 2013
Huang Hua, Zhao PengXiang, Arimatsu Kei, Tabeta Koichi, Yamazaki Kazuhisa, Krieg Lara, Fu Emily, Zhang Tian, Du Xin
Abstract excerpt
Linkage between transmembrane proteins and the spectrin-based cytoskeleton is necessary for membrane elasticity of red blood cells. Mutations of the proteins that mediate this linkage result in various types of hemolytic anemia. Here we report a novel N-ethyl-N-nitrosourea-induced mutation of ankyrin-1, named hema6, which causes hereditary spherocytosis in mice through a mild reduction of protein expression. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.