Prefoldin 5 is required for normal sensory and neuronal development in a murine model.
Document Type
Article
Publication Date
2011
Keywords
Base-Sequence, Cell-Proliferation, Cell-Survival, Central-Nervous-System, Female, Humans, Hypogonadism, Male, Mice, Microfilaments, Microtubules, Models-Animal, Models-Molecular, Molecular-Chaperones, Mutagenesis, Mutation-Missense, Nitrosourea-Compounds, Point-Mutation, Protein-Conformation, Retinal-Photoreceptor-Cell-Inner-Segment, Retinal-Photoreceptor-Cell-Outer-Segment, Saccharomyces-cerevisiae, Sensory-Receptor-Cells
JAX Source
J Biol Chem 2011 Jan; 286(1):726-36.
First Page
726
Last Page
736
Abstract
Molecular chaperones and co-chaperones are crucial for cellular development and maintenance as they assist in protein folding and stabilization of unfolded or misfolded proteins. Prefoldin (PFDN), a ubiquitously expressed heterohexameric co-chaperone, is necessary for proper folding of nascent proteins, in particular, tubulin and actin. Here we show that a genetic disruption in the murine Pfdn5 gene, a subunit of prefoldin, causes a syndrome characterized by photoreceptor degeneration, central nervous system abnormalities, and male infertility. Our data indicate that a missense mutation in Pfdn5, may cause these phenotypes through a reduction in formation of microtubules and microfilaments, which are necessary for the development of cilia and cytoskeletal structures, respectively. The diversity of phenotypes demonstrated by models carrying mutations in different PFDN subunits suggests that each PFDN subunit must confer a distinct substrate specificity to the prefoldin holocomplex.
Recommended Citation
Lee Y,
Smith RS,
Jordan W,
King BL,
Won J,
Valpuesta JM,
Naggert JK,
Nishina PM.
Prefoldin 5 is required for normal sensory and neuronal development in a murine model. J Biol Chem 2011 Jan; 286(1):726-36.