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The Gene Mutated in Cocoa Mice, Carrying a Defect of Organelle Biogenesis, Is a Homologue of the Human Hermansky–Pudlak Syndrome-3 Gene
- Source :
- Genomics. 78:30-37
- Publication Year :
- 2001
- Publisher :
- Elsevier BV, 2001.
-
Abstract
- 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 candidate for human HPS. Analysis of coa-mutant mice and cultured coa-mutant mouse melanocytes indicates that the normal coa gene product is involved in early stages of melanosome biogenesis and maturation.
- Subjects :
- Male
Mutant
Gene Expression
Mice
hemic and lymphatic diseases
Tissue Distribution
Cloning, Molecular
Cells, Cultured
Genetics
Mice, Inbred C3H
Melanosomes
integumentary system
Homozygote
Intracellular Signaling Peptides and Proteins
Chromosome Mapping
Cell biology
medicine.anatomical_structure
Melanocytes
Female
Heterozygote
Recombinant Fusion Proteins
Molecular Sequence Data
Biology
Melanocyte
Gene product
medicine
Animals
Humans
Amino Acid Sequence
RNA, Messenger
Hair Color
Gene
Alleles
Melanosome
Organelles
Base Sequence
Sequence Homology, Amino Acid
Membrane Proteins
DNA
Sequence Analysis, DNA
Blotting, Northern
medicine.disease
Mice, Mutant Strains
eye diseases
Mice, Inbred C57BL
Microscopy, Electron
Genes
Mutation
Organelle biogenesis
Hermansky–Pudlak syndrome
Sequence Alignment
Biogenesis
Subjects
Details
- ISSN :
- 08887543
- Volume :
- 78
- Database :
- OpenAIRE
- Journal :
- Genomics
- Accession number :
- edsair.doi.dedup.....34e13ec020608247fbe85282a4157fe6