A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3)

Biochimica et Biophysica Acta - Molecular Cell Research

Volumn 1833, Issue 3, 2013, Pages 468-478

  Carmona Rivera, Carmelo ^a,b,c   Simeonov, Dimitre R ^b   Cardillo, Nicholas D ^b   Gahl, William A ^b   Cadilla, Carmen L ^a  

^a UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Bleeding; BLOC 3; Hermansky Pudlak syndrome; HPS; Lysosome related organelle; Oculocutaneous albinism

Indexed keywords

BIOGENESIS OF LYSOSOME RELATED ORGANELLE COMPLEX 3; CELL PROTEIN; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; BINDING SITE; BIOGENESIS; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE FUNCTION; GENE INTERACTION; HERMANSKY PUDLAK SYNDROME 1 GENE; HERMANSKY PUDLAK SYNDROME 2 GENE; HUMAN; HUMAN TISSUE; IMMUNOPRECIPITATION; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN STABILITY;

BLOTTING, WESTERN; CARRIER PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; HERMANSKI-PUDLAK SYNDROME; HUMANS; IMMUNOENZYME TECHNIQUES; IMMUNOPRECIPITATION; MEMBRANE PROTEINS; MUTATION; PROTEINS; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84871875693     PISSN: 01674889     EISSN: 18792596     Source Type: Journal    
DOI: 10.1016/j.bbamcr.2012.10.019     Document Type: Article

References (29)

1. Hermansky F., Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959, 14:162-169.
2. Schinella R.A., Greco M.A., Cobert B.L., Denmark L.W., Cox R.P. Hermansky-Pudlak syndrome with granulomatous colitis. Ann. Intern. Med. 1980, 9:220-223.
3. Gahl W.A., Brantly M., Kaiser-Kupfer M.I., Iwata F., Hazelwood S., Shotelersuk V., Duffy L.F., Kuehl E.M., Troendle J., Bernardini I. Genetic defect and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N. Engl. J. Med. 1998, 338:1258-1264.
4. Brantly M., Avila N.A., Shotelersuk V., Lucero C., Huizing M., Gahl W.A. Pulmonary function and high-resolution CT finding in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000, 117:129-136.
5. Oh J., Bailin T., Fukai K., Feng G.H., Ho L., Mao J.I., Frenk E., Tamura N., Spritz R.A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat. Genet. 1996, 14:300-306.
6. Dell'Angelica E.C., Shotelersuk V., Aguilar R.C., Gahl W.A., Bonifacino J.S. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the b3A subunit of the AP-3 adaptor. Mol. Cell 1999, 3:11-21.
7. Anikster Y., Huizing M., White J., Shevchenko Y.O., Fitzpatrick D.L., Touchman J.W., Compton J.G., Bale S.J., Swank R.T., Gahl W.A., Toro J.R. 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.
8. Suzuki T., Li W., Zhang Q., Karim A., Novak E.K., Sviderskaya E.V., Hill S.P., Bennett D.C., Levin A.V., Nieuwenhuis H.K., Fong C.T., Castellan C., Miterski B., Swank R.T., Spritz R.A. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat. Genet. 2002, 30:321-324.
9. Zhang Q., Zhao B., Li W., Oiso N., Novak E.K., Rusiniak M.E., Gautam R., Chintala S., O'Brien E.P., Zhang Y., Roe B.A., Elliott R.W., Eicher E.M., Liang P., Kratz C., Legius E., Spritz R.A., O'Sullivan T.N., Copeland N.G., Jenkins N.A., Swank R.T. 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.
10. Li W., Zhang Q., Oiso N., Novak E.K., Gautam R., O'Brien E.P., Tinsley C.L., Blake D.J., Spritz R.A., Copeland N.G., Jenkins N.A., Amato D., Roe B.A., Starcevic M., Dell'Angelica E.C., Elliott R.W., Mishra V., Kingsmore S.F., Paylor R.E., Swank R.T. 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.
11. Morgan N.V., Pasha S., Johnson C.A., Ainsworth J.R., Eady R.A., Dawood B., McKeown C., Trembath R.C., Wilde J., Watson S.P., Maher E.R. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am. J. Hum. Genet. 2006, 78:160-166.
12. Cullinane A.R., Curry J.A., Carmona-Rivera C., Summers C.G., Ciccone C., Dorward H., Hess R.A., White J.G., Adams D., Huizing M., Gahl W.A. A BLOC-1 mutation screen reveals PLDN (Pallidin) is mutated in Hermansky-Pudlak syndrome type 9 (HPS-9). Am. J. Hum. Genet. 2011, 88:778-787.
13. Di Pietro S.M., Falcón-Pérez J.M., Dell'Angelica E.C. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 2004, 5:276-283.
14. Martina J.A., Moriyama K., Bonifacino J.S. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J. Biol. Chem. 2003, 278:29376-29384.
15. Nazarian R., Falcón-Pérez J.M., Dell'Angelica E.C. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) protein HPS1 and HPS4. Proc. Natl. Acad. Sci. U. S. A. 2003, 100:8770-8775.
16. Chiang P.W., Oiso N., Gautam R., Suzuki T., Swank R.T., Spritz R.A. The Hermanky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosomerelated organelles. J. Biol. Chem. 2003, 278:20332-20337.
17. Kloer D.P., Rojas R., Ivan V., Moriyama K., Van Vlijmen T., Murthy N., Ghirlando R., Van Der Sluijs P., Hurley J.H., Bonifacino J.S. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. J. Biol. Chem. 2010, 285:7794-7804.
18. Hoffman-Sommer M., Grynberg M., Kucharczyk R., Rytka J. The CHiPS domain-ancient traces for the Hermansky-Pudlak syndrome. Traffic 2005, 6:534-538.
19. Kinch L.N., Grishin N.V. Longin-like folds identified in CHiPS and DUF254 proteins: vesicle trafficking complexes conserved in eukaryotic evolution. Protein Sci. 2006, 15:2669-2674.
20. Bailin T., Oh J., Feng G.H., Fukai K., Spritz R.A. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J. Invest. Dermatol. 1997, 108:923-927.
21. Oh J., Liu Z.X., Feng G.H., Raposo G., Spritz R.A. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Hum. Mol. Genet. 2000, 9:375-378.
22. Doray B., Bruns K., Ghosh P., Kornfeld S.A. Autoinhibition of the ligand-binding site of GGA1/3 VHS domains by an internal acidic cluster-dileucine motif. Proc. Natl. Acad. Sci. U. S. A. 2002, 8072-8077.
23. Hammond J.W., Blasius T.L., Soppina V., Cai D., Verhey K.J. Autoinhibition of the kinesin-2 motor KIF17 via dual intramolecular mechanisms. J. Cell Biol. 2010, 189:1013-1025.
24. Hazelwood S., Shotelersuk V., Wildenberg S.C., Chen D., Iwata F., Kaiser-Kupfer M.I., White J.G., King R.A., Gahl W.A. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am. J. Hum. Genet. 1997, 61:1088-1094.
25. Shotelersuk V., Hazelwood S., Larson D., Iwata F., Kaiser-Kupfer M.I., Kuehl E., Bernardini I., Gahl W.A. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol. Genet. Metab. 1998, 2:99-107.
26. Ito S., Suzuki T., Inagaki K., Suzuki N., Takamori K., Yamada T., Nakazawa M., Hatano M., Takiwaki H., Kakuta Y., Spritz R.A., Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J. Invest. Dermatol. 2005, 125:715-720.
27. van Deutekom J.C., Janson A.A., Ginjaar I.B., Frankhuizen W.S., Aartsma-Rus A., Bremmer-Bout M., Den Dunnen J.T., Koop K., Van Der Kooi A.J., Goemans N.M., De Kimpe S.J., Ekhart P.F., Venneker E.H., Platenburg G.J., Verschuuren J.J., Van Ommen G.J. Local dystrophin restoration with antisense oligonucleotide PRO051. N. Engl. J. Med. 2007, 357:2677-2686.
28. Kinali M., Arechavala-Gomeza V., Feng L., Cirak S., Hunt D., Adkin C., Guglieri M., Ashton E., Abbs S., Nihoyannopoulos P., Garralda M.E., Rutherford M., McCulley C., Popplewell L., Graham I.R., Dickson G., Wood M.J., Wells D.J., Wilton S.D., Kole R., Straub V., Bushby K., Sewry C., Morgan J.E., Muntoni F. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, doseescalation, proof-of-concept study. Lancet Neurol. 2009, 8:918-928.
29. Cirak S., Arechavala-Gomeza V., Guglieri M., Feng L., Torelli S., Anthony K., Abbs S., Garralda M.E., Bourke J., Wells D.J., Dickson G., Wood M.J., Wilton S.D., Straub V., Kole R., Shrewsbury S.B., Sewry C., Morgan J.E., Bushby K., Muntoni F. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011, 378:595-605.