The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.

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.

[1]  S. Bale,et al.  Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico , 2001, Nature Genetics.

[2]  J. Bonifacino,et al.  The molecular machinery for lysosome biogenesis * , 2001, BioEssays : news and reviews in molecular, cellular and developmental biology.

[3]  A. Chakraborty,et al.  Small Gtpase rab3A is associated with melanosomes in melanoma cells. , 2000, Pigment cell research.

[4]  A. Brunger.  Structural insights into the molecular mechanism of Ca2+-dependent exocytosis , 2000, Current Opinion in Neurobiology.

[5]  R. Spritz,et al.  The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. , 2000, Human molecular genetics.

[6]  J. Bonifacino,et al.  Molecular Characterization of the Protein Encoded by the Hermansky-Pudlak Syndrome Type 1 Gene* , 2000, The Journal of Biological Chemistry.

[7]  Liping Huang,et al.  The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency , 1999, Nature Genetics.

[8]  R. Spritz.  Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast. , 1999, Trends in genetics : TIG.

[9]  A. Seymour,et al.  The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. , 1999, Human molecular genetics.

[10]  B. Hogan,et al.  Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. , 1999, Molecular cell.

[11]  J. Bonifacino,et al.  Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. , 1999, Molecular cell.

[12]  L. Feng,et al.  Mouse models of Hermansky Pudlak syndrome: a review. , 1998, Pigment cell research.

[13]  R. Spritz,et al.  Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. , 1998, American journal of human genetics.

[14]  J. White,et al.  Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. , 1997, American journal of human genetics.

[15]  Thomas L. Madden,et al.  Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. , 1997, Nucleic acids research.

[16]  M. Brilliant,et al.  The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[17]  M. Robinson,et al.  Characterization of the Adaptor-related Protein Complex, AP-3 , 1997, The Journal of cell biology.

[18]  R. Spritz,et al.  Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. , 1997, Human molecular genetics.

[19]  K. Roche,et al.  AP‐3: an adaptor‐like protein complex with ubiquitous expression , 1997, The EMBO journal.

[20]  R. Spritz,et al.  Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. , 1997, The Journal of investigative dermatology.

[21]  Richard A. Spritz,et al.  Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles , 1996, Nature Genetics.

[22]  R. Darnell,et al.  A novel adaptor-related protein complex , 1996, The Journal of cell biology.

[23]  P. Bork,et al.  Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome , 1996, Nature Genetics.

[24]  S. Snyder,et al.  Calcineurin associated with the inositol 1,4,5-trisphosphate receptor-FKBP12 complex modulates Ca2+ flux , 1995, Cell.

[25]  J. Guénet,et al.  Phenotypic reversions at the W/Kit locus mediated by mitotic recombination in mice , 1995, Molecular and cellular biology.

[26]  B. Roe,et al.  CHAPTER SIX – Shotgun Cloning as the Strategy of Choice to Generate Templates for High-throughput Dideoxynucleotide Sequencing , 1994 .

[27]  D. Bennett,et al.  Effects of the developmental colour mutations silver and recessive spotting on proliferation of diploid and immortal mouse melanocytes in culture. , 1992, Development.

[28]  B. Roe,et al.  Strategies for rapid and accurate DNA sequencing , 1991 .

[29]  P. Sharp,et al.  Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[30]  M. Frohman,et al.  Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[31]  R. Swank,et al.  Cocoa: a new mouse model for platelet storage pool deficiency , 1988, British journal of haematology.

[32]  D. Bennett,et al.  A line of non‐tumorigenic mouse melanocytes, syngeneic with the B16 melanoma and requiring a tumour promoter for growth , 1987, International journal of cancer.

[33]  P. Pudlák,et al.  Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. , 1959, Blood.