Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes

Platelets

Volumn 9, Issue 1, 1998, Pages 21-29

  Spritz, R A ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CELL GRANULE; CELL ULTRASTRUCTURE; CHEDIAK HIGASHI SYNDROME; CHROMOSOME 10Q; CLINICAL FEATURE; GENE MUTATION; HAIR COLOR; HUMAN; LYSOSOME; MELANOSOME; MOLECULAR GENETICS; OCULAR ALBINISM; PIGMENT DISORDER; PRIORITY JOURNAL; REVIEW; SECRETORY GRANULE; SKIN PIGMENTATION; THROMBOCYTE DISORDER;

EID: 0031929550     PISSN: 09537104     EISSN: None     Source Type: Journal    
DOI: 10.1080/09537109876960     Document Type: Review

References (106)

1. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow. Blood 1959; 14: 162-9.
2. Witkop CJ, Almadovar C, Pineiro B, Babcock MN. Hermansky - Pudlak syndrome (HPS). An epidemiologic study. Ophth Paediatr Genet 1990; 11: 245-50.
3. Witkop CJ, Babcock MN, Rao GHR, Gaudier F, Sommers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, Cal SX, White JG. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Assoc Med P Rico 1990; 82: 333-9.
4. Witkop CJ Jr, Quevedo WC, Fitzpatrick TB, King RA. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1989: 2905-47.
5. Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. Am J Med 1979; 6: 737-47.
6. Schinella RA, Greco MA, Cobert BL, Denmark WL, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med 1980; 92: 20-3.
7. Lattion F, Schneider P, Da Prada M, Lorez HP, Richards JG, Picotti GB, Frenk E. Syndrome d'Hermansky-Pudlak dans un village valaisan. Helv Paediatr Acta 1983; 38: 495-512.
8. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM. Hermansky-Pudlak syndrome in a Swiss population. Dermatology 1993; 187: 248-56.
9. White JG, Edson JR, Desnick SJ, Witkop CJ Jr. Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am J Pathol 1971; 63: 319-32.
10. Hardisty RM, Mills CB, Ketsa-Ard K. The platelet defect associated with albinism. Br J Haematol 1972; 23: 679-92.
11. Holmsen H, Weiss HJ. Secretable storage pool in platelets. Blood 1972; 39: 197-209.
12. Logan LJ, Rapaport SI, Maher I. Albinism and abnormal platelet function. N Engl J Med 1979; 284: 1340-5.
13. Holmsen H, Weiss HJ. Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia 'storage pool disease'. Anna Rev Med 1979; 30: 119-34.
14. Fukami MH. Isolation of dense granules from human platelets. Meth Enzymol 1992; 169B: 36-42.
15. Frenk E, Lattion F. The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome. J Investig Dermatol 1982; 78: 141-3.
16. White JG, Witkop CJ, Gerritson SM. The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages. Am J Path 1973; 70: 329-44.
17. Schinella RA, Greco MA, Garay SM, Lackner H, Wolman SR, Fazzini EP. Hermansky-Pudlak syndrome: a clinicopathologic study. Hum Pathol 1985; 16: 366-76.
18. Harmon KR, Witkop CJ, White JG, King RA, Peterson M, Moore D, Tashjian J, Marinelli WA, Bitterman PB. Pathogenesis of pulmonary fibrosis: platelet derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med 1994; 123: 617-27.
19. Witkop CJ Jr, Bowie EJW, Krumwiede MD, Swanson JL, Plumhoff EA, White JG. Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak syndrome. Am J Hemat 1993; 44: 256-9.
20. Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girma J-P, Vicic WJ, Rogers J. Pseudo-von Willebrand's disease: an intrinsic platelet defect with aggregation by unmodified human factor VIII-von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. New Engl J Med 1982; 306: 326-33.
21. Fukai K, Oh J, Frenk E, Almodóvar C, Spritz RA. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Molec Genet 1995; 4: 1665-9.
22. Wildenberg SC, Oetting WS, Almodóvar C, Krumwiede M, White JG, King RA. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet 1995; 57: 755-65.
23. 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. Nature Genet 1996; 14: 300-6.
24. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Investig Derm 1997; 108: 923-7.
25. Hall SL, Padgett RA. Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites. J Mol Biol 1994; 239: 357-65.
26. Bennett D. Genetics, development, and malignancy of melanocytes. Int J Cytol 1993; 146: 191-260.
27. Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet 1997; 6: 793-7.
28. Silvers WK. The Coat Colon of Mice. New York: Springer, 1979.
29. Lyon M, Searle AG. Genetic Variants and Strains of the Laboratory Mouse. Oxford: Oxford University Press, 1989.
30. Murray HW, Halprashad J, McDermott DF, Stoeckle MY. Multiple host defense defects in failure of C57BL/6 eplep (pale ear) mice to resolve visceral Leishmania donovani infection. Infect Immunity 1996; 64: 61-6.
31. Shanahan F, Randolph L, King R, Oseas R, Brogan M, Witkop C, Rotter J, Targan S. Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases. Am J Med 1988; 85: 823-8.
32. Spritz RA. Chediak-Higashi syndrome. In: Ochs HD, Edvard Smith CI, Puck J, eds. Primary Immunodeficiency Diseases, a Molecular and Genetic Approach. Oxford, in press.
33. Beguez-Cesar AB. Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos. Bol Soc Cubana Pediatr 1943; 15: 900-22.
34. Steinbrinck W. Uber eine neue Granulationsanomalie der Leukocyten. Dtsch Arch Klin Med 1948; 193: 577-81.
35. Chediak M. Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel. Rev Hematol 1952; 7: 362-7.
36. Higashi O. Congenital gigantism of peroxidase granules. Tohoku J Exp Med 1954; 59: 315-32.
37. Sato A. Chediak and Highashi's disease: probable identity of 'a new leukocytal anomaly' (Chediak) and 'congenital gigantism of peroxidase granules (Higashi)'. Tohoku J Exp Med 1955; 61: 201-10.
38. Donohue WL, Bain HW. Chediak-Higashi syndrome: a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. Pediatrics 1957; 20: 416-30.
39. Bejaoui M, Veber F, Girault D, Gaud C, Blanche S, Griscelli C, Fischer A. Phase accelereede la maladie de Chediak-Higashi. Arch Fr Pediatr 1989; 46: 733-6.
40. Kazmierowski JA, Elin RJ, Reynolds HY. Chediak-Higashi syndrome: reversal of increased susceptibility to infection by bone marrow transplantation. Blood 1975; 47: 555-9.
41. Virelizier JL, Lagrue A, Durandy A, Arenzana F, Oury C, Griseelli C, Reinert P. Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone marrow transplantation. Lancet 1982; 306: 1055-6.
42. Filipovich AH, Shapiro RS, Ramsay NKC, Kim T, Blazar B, Kersey J, McGlave P. Unrelated donor bone marrow transplantation for correction of lethal congenital immnodeficiencies. Blood 1992; 80: 270-6.
43. Haddad E, Le Deist F, Blanche S, Benkerrou M, Rohrlich P, Vilmer E, Griscelli C, Fischer A. Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation. Blood 1995; 85: 3328-33.
44. Blume RS, Wolff SM. The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine 1972; 51: 247-80.
45. Misra VP, King RHM, Harding AE, Muddle JR, Thomas PK. Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol 1991; 81: 354-8.
46. Uyama E, Hirano T, Ito K, Nakashima H, Sugimoto M, Naito M, Uchino M, Ando M. Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand 1994; 89: 175-83.
47. Ramirez-Duque P, Arends T, Menno F. Chediak-Higashi syndrome: description of a cluster in a Venezuelan-Andean isolated region. J Medicine 1983; 13: 431-51.
48. Leal I, Merino F, Soto H, Goihman-Yahr M, De Salvo L, Amesty C, Bretana A. Chediak-Higashi syndrome in a Venezuelan black child. J Am Acad Derm 1985; 13: 337-42.
49. White JG. The Chediak-Higashi syndrome: a possible lysosomal disease. Blood 1966; 28: 143-56.
50. Windhorst DB, Zelickson AS, Good RA. Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science 1966; 151: 81-3.
51. Lockman LA, Kennedy WR, White JG. The Chediak-Higashi syndrome: eleclrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 1967; 70: 942-51.
52. Jones KL, Stewart RM, Fowler M, Fukuda M, Holcombe RF. Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. Clin Immunol Immunopath 1992; 65: 219-26.
53. Burkhardt JK, Wiebel FA, Hester S, Aragon A. The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. J Exp Med 1993; 178: 1845-56.
54. Page AR, Berendes H, Warner J, Good RA. The Chediak-Higashi syndrome. Blood 1962; 20: 330-43.
55. Windhorst DB, Zelickson AS, Good RA. A human pigmentary dilution based on a heritable subcellular structural defect - the Chediak-Higashi syndrome. J Invent Derm 1968; 50: 9-18.
56. Zelickson AS, Windhorst DB, White JG, Good RA. The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 1967; 49: 575-81.
57. Bedova V. Pigmentary changes in Chediak-Higashi syndrome. Br J Derm 1971; 85: 336-47.
58. Buchanan GR, Handin RI. Platelet function in the Chediak-Higashi syndrome. Blood 1976; 47: 941-8.
59. Boxer GJ, Holmsen H, Robkin L, Bang NU, Boxer LA, Baehner RL. Abnormal platelet function in Chediak-Higashi syndrome. Br J Haematol 1977; 35: 521-33.
60. Apitz-Castro R, Cruz MR, Ledezma E, Merino F, Ramirez-Duque P, Dangelmeier C, Holmsen H. The storage pool deficiency in platelets from humans with the Chediak-Higashi syndrome: study of six patients. Br J Haematol 1985; 59: 471-83.
61. Costa JL, Fauci AS, Wolff SM. A platelet abnormality in the Chediak-Higashi syndrome of man. Blood 1976; 48: 517-20.
62. Parmley RT, Poon MC, Crist WM, Malluh A. Giant platelet granules in a child with the Chediak-Higashi syndrome. Am J Hematol 1979; 6: 651-60.
63. Rendu F, Breton-Gorius J, Lebret M, Klebanoff C, Buriot D, Griscelli C, Levy-Toledano S, Caen JP. Evidence that abnormal platelet functions in human Chediak-Higashi syndrome are the result of a lack of dense bodies. Am J Pathol 1983; 111: 307-14.
64. White JG. Platelet microtubules and giant granules in the Chediak-Higashi syndrome. Am J Med Tech 1978; 44: 273-8.
65. Haliotis T, Roder J, Klein M, Ortaldo J, Fauci, AS, Herberman RB. Chediak-Higashi gene in humans. I. Impairment of natural-killer function. J Exp Med 1980; 151: 1039-48.
66. Klein M, Roder J, Haliotis T, Korec S, Jett JR, Herberman RB, Katz P, Fauci AS. Chediak-Higashi gene in humans. II. The selectivity of the defect in natural-killer and antibody-dependent cell-mediated cytotoxicity function. J Exp Med 1980; 151: 1049-58.
67. Roder JC, Haliotis T, Klein M, Korec S, Jett JR, Ortaldo J, Heberman RB, Katz P, Fauci AS. A new immunodeficiency disorder in humans involving NK cells. Nature 1980; 284: 553-5.
68. Deprez P, Laurent R, Griscelli C, Buriot D, Agache P. La maladie de Chediak-Higashi. A propos d'une nouvelle observation. Ann Dermatol Venereol 1978; 105: 841-9.
69. Prieur A-M, Griscelli C, Dasuillard F. Lymphotoxin (LT) production by lymphocytes from children with primary immunodeficiency disease. Clin Immunol Immunopathol 1978; 10: 468-76.
70. Menno F, Klein GO, Henle W, Ramirez-Duque P, Forsgren M, Amesty C. Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome. Clin Immunol Immunopath 1983; 27: 326-39.
71. Spritz RA. The familial histiocytoses. Pediatr Pathol 1985; 3: 43-57.
72. Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med 1978; 65: 691-702.
73. Mottonen M, Lanning M, Saarinen UM. Allogeneic bone marrow transplantation in Chediak-Higashi syndrome. Pediatr Hematol Oncol 1995; 12: 55-9.
74. Landman-Parker J, Le Deist F, Blaise A, Brison O, Fischer A. Partial engraftment of donor bone marrow cells associated with long-term remission of hemophagocytic lymphohistiocytosis. Br J Haematol 1993; 85: 37-41.
75. Lutzner MA, Lowrie CT, Jordan HW. Giant granules in leukocytes of the beige mouse. J Hered 1966; 58: 299-300.
76. Windhorst DB, Padgett B. The Chediak-Higashi syndrome and the homologous trait in animals. J Invest Dermatol 1973; 60: 529-37.
77. Roder JC. The beige mutation in the mouse. I. A stem cell predetermined impairment in natural killer cell function. J Immunol 1979; 123: 2168-73.
78. Novak EK, Hui S-W, Swank RT. Platelet storage pool deficiency in mouse pigment mutations associated with several distinct genetic loci. Blood 1984; 63: 536-44.
79. Oliver C, Essner E. Distribution of anomalous lysosomes in the beige mouse: a homologue of the Chediak-Higashi syndrome. J Histochem Cytochem 1973; 21: 218-28.
80. Holcombe RF, Strauss W, Owen FL, Boxer LA, Warren RW, Conley ME, Ferrara J, Leavitt RY, Fauci AS, Taylor BA, Seidman JG. Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor γ chain in mouse and man. Genomics 1987; 1: 287-91.
81. Holcombe RF, Stephenson DA, Zweidler A, Stewart RM, Chapman VM, Seidman JG. Linkage of loci associated with two pigment mutations on mouse chromosome 13. Genet Res 1991; 58: 41-50.
82. Jenkins NA, Justice MJ, Gilbert DJ, Chu M-L, Copeland NG. Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes. Genomics 1991; 9: 401-3.
83. Barrat FJ, Auloge L, Pastural E, Lagelouse RD, Vilmer E, Cant AJ, Weissenbach J, Le Paslier D, Fischer A, de Saint Basile G. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-q43. Am J Hum Genet 1996; 59: 625-33.
84. Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Burger J, Spritz RA. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 1996; 59: 620-4.
85. Barbosa MDFS, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RCE, Lovett M, Kingsmore SF. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996; 382: 262-5.
86. Perou CM, Justice MJ, Pryor RJ, Kaplan J. Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes. Proc Natl Acad Sci USA 1996; 93: 5905-9.
87. Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA, McGrail SH, Holmgren L, Brody TH, Dussault BJ Jr, Monroe CA, Duyk GM, Pryor RJ, Li L, Justice MJ, Kaplan J. Identification of the murine beige gene by YAC complementation and positional cloning. Nature Genet 1996; 13: 303-7.
88. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ Jr, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nature Genet 1996; 14: 307-11.
89. Barbosa MDFS, Barrat FJ, Tchenev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet 1997; 6: 1091-8.
90. Karim MA, Nagle DL, Kandil HH, Bürger J, Moore, KJ, Spritz RA. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 1997; 6: 1087-9.
91. Klionsky DJ, Emr SD. A new class of lysosomal/vacuolar protein sorting signals. J Biol Chem 1990; 265: 5349-52.
92. Herman PK, Stack JH, Emr SD. A genetic and structural analysis of the yeast Vps15 protein kinase: evidence for a direct role of VPS15p in vacuolar protein delivery. EMBO J 1991; 10: 4049-60.
93. Stack JH, Herman PK, Schu PV, Emr SD. A membrane-associated complex containing the Vps15 protein kinase and the VPS34 PI 3-kinase is essential for protein sorting to the yeast lysosome-like vacuole. EMBO J 1993; 12: 2195-204.
94. Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ, Boissy RE. On the analysis of the pathophysiology of Chediak-Higashi syndrome. Lab Invest 1994; 71: 25-34.
95. Brandt EJ, Elliott RW, Swank RT. Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice. J Cell Biol 1975; 67: 774-88.
96. Swank RT, Brandt EJ. Turnover of kidney β-glucuronidase in normal and Chediak-Higashi (beige) mice. Am J Path 1978; 92: 755-71.
97. Leader RW, Padgett GA, Gorham JR. Studies of abnormal leukocyte bodies in the mink. Blood 1963; 22: 477-84.
98. Padgett GA, Leader RW, Gorham JR, O'Mary CC. The familial occurrence of Chediak-Higashi syndrome in mink and cattle. Genetics 1964; 49: 505-12.
99. Kramer JW, Davis WC, Prieur DJ. The Chediak-Higashi syndrome of cats. Lab Invest 1977; 36: 554-62.
100. Nes N, Lium B, Braend M, Sjaastad O. A Chediak-Higashi-like syndrome in Arctic blue foxes. Finsk Veterinaertidsskrift 1983; 89: 313.
101. Nes N, Llium B, Sjaastad O, Blom A. Norsk perlerevmutant med Chediak-Higashi-liknende syndrom. Norsk Pelsdyrblad 1985; 59: 325-8.
102. Taylor RF, Farrell RK. Light and electron microscopy of peripheral blood neutrophils in a killer whale affected with Chediak-Higashi syndrome. Fed Proc 1973; 32: 822a.
103. Nishimura M, Inoue M, Nakano T, Nishikawa T, Miyamoto M, Kobayashi T, Kitamura Y. Beige rat: a new animal model of Chediak-Higashi syndrome. Blood 1989; 74: 270-3.
104. Ozaki K, Maeda H, Nishikawa T, Nishimura M, Narama I. Chediak-Higashi syndrome in rats: light and electron microscopical characterization of abnormal granules in beige rats. J Comp Path 1994; 110: 369-79.
105. Penner JD, Prieur DJ. Interspecific genetic complementation analysis with fibroblasts from humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet 1987; 28: 455-70.
106. Perou CM, Kaplan J. Complementation analysis of Chediak-Higashi syndrome: the same gene may be responsible for the defect in all patients and species. Somat Cell Mol Genet 1993; 19: 459-68.