The CHiPS domain - Ancient traces for the Hermansky-Pudlak syndrome

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Volumn 6, Issue 7, 2005, Pages 534-538

  Hoffman Sommer, Marta ^a   Grynberg, Marcin ^a   Kucharczyk, Roza ^a   Rytka, Joanna ^a  

^a INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

Author keywords

Ccz1p; CHiPS domain; HPS syndrome; Yeast

Indexed keywords

BIOGENESIS OF LYSOSOME RELATED ORGANELLES COMPLEX 1; BIOGENESIS OF LYSOSOME RELATED ORGANELLES COMPLEX 2; BIOGENESIS OF LYSOSOME RELATED ORGANELLES COMPLEX 3; FUNGAL PROTEIN; MEMBRANE PROTEIN; PROTEIN CCZ1P; PROTEIN HPS4; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; BIOGENESIS; BLEEDING TENDENCY; CELL FUNCTION; CELL ORGANELLE; CELL TRANSPORT; CLINICAL FEATURE; DISEASE MODEL; GENE; HPS GENE; HUMAN; LYSOSOME; MELANOSOME; NONHUMAN; OCULAR ALBINISM; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; ANIMALS; HERMANSKI-PUDLAK SYNDROME; HUMANS; MICE; MOLECULAR SEQUENCE DATA; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 21044458039     PISSN: 13989219     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0854.2005.00301.x     Document Type: Article

References (27)

1. 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.
2. Dell'Angelica EC. The building BLOC (k) s of lysosomes and related organelles. Curr Opin Cell Biol 2004;16:458-464.
3. Huizing M, Boissy RE, Gahl WA. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res 2002;15:405-419.
4. Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 2003;113:10-17.
5. Bachli EB, Brack T, Eppler E, Stallmach T, Trueb RM, Huizing M, Gahl WA. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Am J Med Genet 2004;127 (2):201-207.
6. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong C-T, Castellan C, Miterski B, Swank RT, Spritz RA. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002;30:321-324.
7. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, Frenk E, Tamura N, Spritz RA. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996;14:300-306.
8. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong C-T, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 1998;62:593-598.
9. Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab 1998;64:99-107.
10. Horikawa T, Araki K, Fukai K, Ueda M, Ueda T, Ito S, Ichihashi M. Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. Br J Dermatol 2000; 143:635-640.
11. Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001;28:376-380.
12. Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001;69:1022-1032.
13. 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, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003;33:145-154.
14. Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003; 35:84-89.
15. Edgar RC. MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucleic Acids Res 2004;32:1792-1797.
16. Hall TA. BioEdit: a user-friendly biological sequence alignment editor and analysis program for windows 95/98/NT. Nucleic Acids Symp Ser 1999: 41, 95-98.
17. Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997; 25:3389-3402.
18. Di Francesco V, Munson PJ, Garnier J. Use of Multiple Alignments in Protein Secondary Structure Prediction. 28th Hawaii International Conference on System Sciences 1995;5:285-291.
19. Martina JA, Moriyama K, Bonifacino JS. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 2003;278:29376-29384.
20. Nazarian R, Falcon-Perez 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. PNAS 2003;100:8770-8775.
21. Kucharczyk R, Dupre S, Avaro S, Hagenauer-Tsapis R, Slonimski PP, Rytka J. The novel protein Ccz1p required for vacuolar assembly in Saccharomyces cerevisiae functions in the same transport pathway as Ypt7p. J Cell Sci 2000; 113:4301-4311.
22. Nguyen T, Novak EK, Kermani M, Fluhr J, Peters LL, Swank RT, Wei ML. Melanosome morphologies in murine models of Hermansky-Pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 2002;119:1156-1164.
23. Novak EK, Hui SW, Swank RT. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 1984;63:536-544.
24. Tong AH, Lesage G, Bader GD, Ding H, Xu H, Xin X, Young J, Berriz GF, Brost RL, Chang M, Chen Y, Cheng X, Chua G, Friesen H, Goldberg DS, Haynes J, Humphries C et al. Global mapping yeast genetic interact network. Science 2004;303:808-813.
25. Heil-Chapdelaine RA, Oberle JR, Cooper A. The cortical protein Num1p is essential for dynein-dependent interactions of microtubules with the cortex. J Cell Biol 2000;151:1337-1344.
26. Diaz E & Pfeffer SR. TIP47: a cargo selection device for mannose-6-phosphate receptor trafficking. Cell 1998;93:433-443.
27. Lu X, Gruia-Gray J, Copeland NG, Gilbert DJ, Jenkins NA, Londos C, Kimmel AR. The murine perilipin gene: the lipid droplet-associated perilipins derive from tissue-specific, mRNA variants and define a gene family of ancient origin. Mamm Ganome 2001;12:741-749.