Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

Journal of Medical Genetics

Volumn 46, Issue 12, 2009, Pages 803-810

  Huizing, M ^a   Pederson, B ^a   Hess, R A ^a   Griffin, A ^a   Helip Wooley, A ^a   Westbroek, W ^a   Dorward, H ^a   O'Brien, K J ^a,b   Golas, G ^a,b   Tsilou, E ^c   White, J G ^d   Gahl, W A ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MONOPHENOL MONOOXYGENASE; TYROSINASE RELATED PROTEIN 1;

ADOLESCENT; ADULT; ARTICLE; BIOGENESIS; BLEEDING TENDENCY; CASE REPORT; CELL CULTURE; CHROMOSOME 10Q; CLINICAL FEATURE; ELECTRON MICROSCOPY; EXON; FEMALE; GENE DELETION; GENE MUTATION; HERMANSKY PUDLAK SYNDROME 6; HUMAN; HUMAN TISSUE; HYPOPIGMENTATION; IMMUNOFLUORESCENCE TEST; LUNG FIBROSIS; MALE; MELANOCYTE; MELANOSOME; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OCULOCUTANEOUS ALBINISM; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; DNA; FEMALE; GENETIC VARIATION; HERMANSKI-PUDLAK SYNDROME; HUMANS; IMMUNOHISTOCHEMISTRY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MELANOSOMES; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 72749102947     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.065961     Document Type: Article

References (30)

1. Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998;338:1258-1264 (Pubitemid 28216579)
2. Raposo G, Marks MS, Cutler DF. Lysosome-related organelles: driving post-Golgi compartments into specialisation. Curr Opin Cell Biol 2007;19:394-401. (Pubitemid 47268761)
3. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annu Rev Genomics Hum Genet 2008;9:359-386
4. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 2006;19:19-42.
5. 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 (Pubitemid 38758339)
6. 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 beta 3A subunit of the AP-3 adaptor. Mol Cell 1999;3:11-21. (Pubitemid 29292473)
7. 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 (Pubitemid 36935855)
8. 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. Proc Natl Acad Sci U S A 2003;100:8770-8775 (Pubitemid 36899174)
9. Di Pietro SM, Falcon-Perez JM, Dell'Angelica EC. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 2004;5:276-283
10. 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
11. Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, McKeown C, Trembath RC, Wilde J, Watson SP, Maher ER. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 2006;78:160-166 (Pubitemid 41833170)
12. Starcevic M, Dell'Angelica EC. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem 2004;279:28393-28401 (Pubitemid 38900119)
13. 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 (Pubitemid 36869033)
14. Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 2002;20:482.
15. 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 (Pubitemid 33015817)
16. Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 2004;5:711-722 (Pubitemid 39199134)
17. Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, Benassi M, Gentili F, Ferrari D, Notarangelo LD, Cavadini P, Marcenaro E, Dusi S, Cassatella M, Facchetti F, Griffiths GM, Moretta A, Notarangelo LD, Badolato R. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 2006;107:4857-4864 (Pubitemid 43882638)
18. Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 2002;76:234-242 (Pubitemid 35034557)
19. Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Ophthalmology 2004;111:1599-1603 (Pubitemid 39030818)
20. Hussain N, Quezado M, Huizing M, Geho D, White JG, Gahl W, Mannon P. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Clin Gastroenterol Hepatol 2006;4:73-80. (Pubitemid 43129527)
21. Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol 2002;179:887-892
22. Helip-Wooley A, Westbroek W, Dorward HM, Koshoffer A, Huizing M, Boissy RE, Gahl WA. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol 2007;127:1471-1478 (Pubitemid 46762991)
23. 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;33:145-153 (Pubitemid 36177065)
24. Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. Hum Mutat 2006;27:1158.
25. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001;25:402-408 (Pubitemid 34164012)
26. Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat 2003;22:245-251 (Pubitemid 37071641)
27. Raposo G, Tenza D, Murphy DM, Berson JF, Marks MS. Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells. J Cell Biol 2001;152:809-824
28. Di Pietro SM, Falcon-Perez JM, Tenza D, Setty SR, Marks MS, Raposo G, Dell'Angelica EC. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell 2006;17:4027-4038 (Pubitemid 44330885)
29. Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, Lamoreux ML, Di Pietro SM, Starcevic M, Bennett DC, Dell'Angelica EC, Raposo G, Marks MS. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell 2007;18:768-780 (Pubitemid 46399484)
30. Berson JF, Harper DC, Tenza D, Raposo G, Marks MS. Pmel17 initiates premelanosome morphogenesis within multivesicular bodies. Mol Biol Cell 2001;12:3451-3464 (Pubitemid 33108478)