Article
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.
Genomics - 1 Nov 2001
Suzuki T, Li W, Zhang Q, Novak E K, Sviderskaya E V, Wilson A, Bennett D C, Roe B A, Swank R T, Spritz R A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules. In the mouse, at least 15 loci are associated with mutant phenotypes similar to human HPS. We have identified the gene mutated in cocoa (coa) mice, which is associated with an HPS-like mutant phenotype and thus represents a strong...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Northern
- Cells, Cultured
- Chromosome Mapping
- Cloning, Molecular
- DNA
- Female
- Gene Expression