The Gene Mutated in Cocoa Mice, Carrying a Defect of Organelle Biogenesis, Is a Homologue of the Human Hermansky–Pudlak Syndrome-3 Gene

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• 作者：Suzuki ; Tamio ; Li ; Wei ; Zhang ; Qing ; Novak ; Edward K. ; Sviderskaya ; Elena V. ; Wilson ; Amanda ; et. al.
• 关键词：organelle ; melanosome ; lysosome ; Hermansky&ndash ; Pudlak syndrome
• 刊名：Genomics
• 出版年：2001
• 出版时间：November, 2001
• 年：2001
• 卷：78
• 期：1-2
• 页码：30-37
• 全文大小：515 K

文摘

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.