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.
journal_name
Genomicsjournal_title
Genomicsauthors
Suzuki T,Li W,Zhang Q,Novak EK,Sviderskaya EV,Wilson A,Bennett DC,Roe BA,Swank RT,Spritz RAdoi
10.1006/geno.2001.6644subject
Has Abstractpub_date
2001-11-01 00:00:00pages
30-7issue
1-2eissn
0888-7543issn
1089-8646pii
S0888-7543(01)96644-3journal_volume
78pub_type
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