The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5)

Traffic

Volumn 8, Issue 2, 2007, Pages 154-168

  Falcón Pérez, Juan M ^a   Romero Calderón, Rafael ^a   Brooks, Elizabeth S ^a   Krantz, David E ^a   Dell'Angelica, Esteban C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Drosophila melanogaster; Hermansky Pudlak; HPS; Lysosome related organelle; Organelle biogenesis; Pigment granule

Indexed keywords

ADAPTOR PROTEIN; BIOGENESIS OF LYSOSOME RELATED ORGANELLE COMPLEX 1; BIOGENESIS OF LYSOSOME RELATED ORGANELLE COMPLEX 2; BIOGENESIS OF LYSOSOME RELATED ORGANELLE COMPLEX 3; EYE PROTEIN; GENE PRODUCT; PROTEIN PINK; UNCLASSIFIED DRUG;

ARTICLE; BIOGENESIS; CELL ORGANELLE; CONTROLLED STUDY; DROSOPHILA MELANOGASTER; FEMALE; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; HERMANSKY PUDLAK SYNDROME 5; IMMUNOBLOTTING; LYSOSOME; MALE; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; ORTHOLOGY; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN TRANSPORT; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; CARRIER PROTEINS; DROSOPHILA; DROSOPHILA PROTEINS; EYE; HERMANSKI-PUDLAK SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PIGMENTATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 33846241710     PISSN: 13989219     EISSN: 16000854     Source Type: Journal    
DOI: 10.1111/j.1600-0854.2006.00514.x     Document Type: Article

References (58)

1. Raposo G, Fevrier B, Stoorvogel W, Marks MS. Lysosome-related organelles: A view from immunity and pigmentation. Cell Struct Funct 2002; 27: 443-456.
2. Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: The secrets of secretory lysosomes. Science 2004; 305: 55-59.
3. King SM, Reed GL. Development of platelet secretory granules. Semin Cell Dev Biol 2002; 13: 293-302.
4. Wei ML. Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Pigment Cell Res 2006; 19: 19-42.
5. Shiflett SL, Kaplan J, McVey Ward D. Chediak-Higashi syndrome: A rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res 2002; 15: 251-257.
6. Di Pietro SM, Dell'Angelica EC. The cell biology of Hermansky-Pudlak syndrome: Recent advances. Traffic 2005; 6: 525-533.
7. Bonifacino JS, Traub LM. Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem 2003; 72: 395-447.
8. Boissy RE, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, Koshoffer A, Gahl WA. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol 2005; 165: 231-240.
9. Di Pietro SM, Falcón-Pérez JM, Tenza D, Setty SRG, Marks MS, Raposo G, Dell'Angelica EC. BLOC-1 interacts with BLOC-2 and AP-3 to facilitate protein trafficking on endosomes. Mol Biol Cell 2006; 17: 4027-4038.
10. Boissy RE, Zhao Y, Gahl WA. Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: Support for the role of the HPS gene product in intracellular trafficking. Lab Invest 1998; 78: 1037-1048.
11. Nazarian R, Falcón-Pérez JM, Dell'Angelica EC. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A 2003; 100: 8770-8775.
12. Falcón-Pérez JM, Nazarian R, Sabatti C, Dell'Angelica EC. Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3. J Cell Sci 2005; 118: 5243-5255.
13. Smith JW, Koshoffer A, Morris RE, Boissy RE. Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment. Pigment Cell Res 2005; 18: 417-426.
14. Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. Murine Hermansky-Pudlak syndrome genes: Regulators of lysosome-related organelles. Bioessays 2004; 26: 616-628.
15. Suzuki T, Oiso N, Gautam R, Novak EK, Panthier J-J, Suprabha PG, Vida T, Swank RT, Spritz RA. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A 2003; 100: 1146-1150.
16. Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. The rat Ruby (R) locus is Rab 38: Identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome 2004; 15: 307-314.
17. Loftus SK, Larson DM, Baxter LL, Antonellis A, Chen Y, Wu X, Jiang Y, Bittner M, Hammer JA III, Pavan WJ. Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci U S A 2002; 99: 4471-4476.
18. Loyd V, Ramaswami M, Krämer H. Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery. Trends Cell Biol 1998; 8: 257-259.
19. Morgan TH. Sex limited inheritance in Drosophila. Science 1910; 32: 120-122.
20. Mackenzie SM, Howells AJ, Cox GB, Ewart GD. Sub-cellular localisation of the White/Scarlet ABC transporter to pigment granule membranes within the compound eye of Drosophila melanogaster. Genetica 2000; 108: 239-252.
21. Ewart GD, Howells AJ. ABC transporters involved in transport of eye pigment precursors in Drosophila melanogaster. Methods Enzymol 1998; 292: 213-224.
22. Simpson F, Peden AA, Christopoulou L, Robinson MS. Characterization of the adaptor-related protein complex, AP-3. J Cell Biol 1997; 137: 835-845.
23. Ooi CE, Moreira JE, Dell'Angelica EC, Poy G, Wassarman DA, Bonifacino JS. Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. EMBO J 1997; 16: 4508-4518.
24. Shestopal SA, Makunin IV, Belyaeva ES, Ashburner M, Zhimulev IF. Molecular characterisation of the deep orange (dor) gene of Drosophila melanogaster. Mol Gen Genet 1997; 253: 642-648.
25. Warner TS, Sinclair DAR, Fitzpatrick KA, Singh M, Devlin RH, Honda BM. The light gene of Drosophila melanogaster encodes a homologue of VPS41, a yeast gene involved in cellular-protein trafficking. Genome 1998; 41: 236-243.
26. Sevrioukov EA, He J-P, Moghrabi N, Sunio A, Krämer H. A role for the deep orange and carnation eye color genes in lysosomal delivery in Drosophila. Mol Cell 1999; 4: 479-486.
27. Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE, Carskadon SL, Kapfhamer D, Sufalko D, Robinson MS, Noebels JL, Burmeister M. Mutation in AP-3 δ in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 1998; 21: 111-122.
28. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor. Mol Cell 1999; 3: 11-21.
29. Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, Gorin MB, Swank RT. The β3A 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. Hum Mol Genet 1999; 8: 323-330.
30. Ma J, Plesken H, Treisman JE, Edelman-Novemsky I, Ren M. Lightoid and Claret: A rab GTPase and its putative guanine nucleotide exchange factor in biogenesis of Drosophila eye pigment granules. Proc Natl Acad Sci U S A 2004; 101: 11652-11657.
31. Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ. Gapped and PSI-BLAST: A new generation of protein database search programs. Nucleic Acids Res 1997; 25: 3389-3402.
32. Bridges CB, Morgan TH. The third-chromosome group of mutant characters of Drosophila melanogaster. Publs Carnegie Instn 1923; 327: 1-251.
33. Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003; 33: 145-153.
34. Smith TF, Gaitatzes C, Saxena K, Neer EJ. The WD repeat: A common architecture for diverse functions. Trends Biochem Sci 1999; 24: 181-185.
35. Robertson HM, Preston CR, Phillis RW, Johnson-Schlitz DM, Benz WK, Engels WR. A stable genomic source of P element transposase in Drosophila melanogaster. Genetics 1988; 118: 461-470.
36. Silva FJ. Pink and sunburst mutations of Drosophila melanogaster are alleles of the same locus. Dros Inf Serv 1988; 67: 72.
37. Brand AH, Perrimon N. Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 1993; 118: 401-415.
38. Loyd VK, Sinclair DA, Wennberg R, Warner TS, Honda BM, Grigliatti TA. A genetic and molecular characterization of the garnet gene of Drosophila melanogaster. Genome 1999; 42: 1183-1193.
39. Mullins C, Hartnell LM, Bonifacino JS. Distinct requirements for the AP-3 adaptor complex in pigment granule and synaptic vesicle biogenesis in Drosophila melanogaster. Mol Gen Genet 2000; 263: 1003-1014.
40. Grether ME, Abrams JM, Agapite J, White K, Steller H. The head involution defective gene of Drosophila melanogaster functions in programmed cell death. Genes Dev 1995; 9: 1694-1708.
41. Silva FJ, Ménsua JL. Synergistic effects between eye-color genes of Drosophila melanogaster. Dros Inf Serv 1985; 61: 156.
42. Gautam R, Novak EK, Tan J, Wakamatsu K, Ito S, Swank RT. Interaction of Hermansky-Pudlak syndrome genes in the regulation of lysosome-related organelles. Traffic 2006; 7: 779-792.
43. Gottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 2003; 160: 636-645.
44. Cannon TD. The inheritance of intermediate phenotypes for schizophrenia. Curr Opin Psychiatry 2005; 18: 135-140.
45. FerréJ, Silva FJ, Real MD, Ménsua JL. Pigment patterns in mutants affecting the biosynthesis of pteridines and xanthommatin in Drosophila melanogaster. Biochem Genet 1986; 24: 545-569.
46. Ewart GD, Cannell D, Cox GB, Howells AJ. Mutational analysis of the traffic ATPase (ABC) transporters involved in uptake of eye pigment precursors in Drosophila melanogaster. Implications for structure-function relationships. J Biol Chem 1994; 269: 10370-10377.
47. Mackenzie SM, Brooker MR, Gill TR, Cox GB, Howells AJ, Ewart GD. Mutations in the white gene of Drosophila melanogaster affecting ABC transporters that determine eye colouration. Biochim Biophys Acta 1999; 1419: 173-185.
48. Lloyd VK, Sinclair DAR, Alperyn M, Crigliatti TA. Enhancer of garnet/δAP-3 is a cryptic allele of the white gene and identifies the intracellular transport system for the white protein. Genome 2002; 45: 296-312.
49. Greenspan RJ. Fly pushing: The theory and practice of Drosophila genetics. New York: Cold Spring Harbor Laboratory Press; 1997.
50. Yamaguchi M, Hirose F, Inoue YH, Shiraki M, Hayashi Y, Nishi Y, Matsukage A. Ectopic expression of human p53 inhibits entry into S phase and induces apoptosis in the Drosophila eye imaginal disc. Oncogene 1999; 18: 6767-6775.
51. Huang AM, Rehm EJ, Rubin GM. Recovery of DNA sequences flanking P-element insertions: Inverse PCR and plasmid rescue. In: Sullivan W, Ashburner M, Hawley RS, editors. Drosophila Protocols. New York: Cold Spring Harbor Laboratory Press; 2000, pp. 429-437.
52. Romero-Calderón R, Shome RM, Simon AF, Daniels RW, DiAntonio A, Krantz DE. A screen for neurotransmitter transporters expressed in the visual system of Drosophila melanogaster identifies three novel genes. J Neurobiol (in press).
53. Ollmann M, Young LM, Di Como CJ, Karim F, Belvin M, Robertson S, Whittaker K, Demsky M, Fisher WW, Buchman A, Duyk G, Friedman L, Prives C, Kopczynski C. Drosophila p53 is a structural and functional homolog of the tumor suppressor p53. Cell 2000; 101: 91-101.
54. Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 2002; 277: 28191-28199.
55. Nazarian R. Starcevic M. Spencer M.J. Dell'Angelica E.C. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem J 2006; 395: 587-598.
56. Real MD, FerréJ, Ménsua JL. Methods for the quantitative estimation of the red and brown pigments of Drosophila melanogaster. Dros Inf Serv 1985; 61: 198-199.
57. Jäger RF, Fischbach KF. Some improvements of the Heisenberg-Böhl method for mass histology of Drosophila heads. Dros Inf Serv 1987; 66: 162-165.
58. Corpet F. Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res 1988; 16: 10881-10890.