Perturbed epidermal pterin metabolism in Hermansky-Pudlak Syndrome

Journal of Investigative Dermatology

Volumn 111, Issue 3, 1998, Pages 511-516

  Schallreuter, Karin U ^a   Beazley, Wayne D ^a   Hibberts, Nigel A ^a   Swanson, Norma N ^b   Pittelkow, Mark R ^b  

^a UNIVERSITY OF BRADFORD   (United Kingdom)

^b MAYO CLINIC   (United States)

Author keywords

HPS; Pigmentation; Pterins

Indexed keywords

BIOPTERIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HYDROLYASE; MUTANT PROTEIN; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PROTEIN KINASE (CALCIUM,CALMODULIN); PTERIN; SAPROPTERIN; TETRAHYDROBIOPTERIN; THIOREDOXIN REDUCTASE; TYROSINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CELL METABOLISM; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; EPIDERMIS; FEMALE; GENE MUTATION; HOMOZYGOTE; HUMAN; HUMAN CELL; KERATINOCYTE; MALE; MELANOCYTE; OCULAR ALBINISM; OXIDATION REDUCTION STATE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0031662854     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00304.x     Document Type: Article

References (42)

1. Baillin UT, Oh J, Feng GH, Fukai L, Spritz RA: Organisation and nucleotide sequence of the human Hermansky Pudlak Syndrome (HPS) gene. J Invest Dermatol 108:923-927, 1997
2. Blau N, Niederwieser A: Guanosine triphosphate cyclohydrolase I assay in human and rat liver using performance liquid chromatography of neopterin phosphates and guanosine nucleotides. Anal Biochem 128:446-452, 1983
3. Davis MD, Kaufman S: Evidence for the formation of the 4a-carbinolamine during the tyrosine-dependent oxidation of tetrahydrobiopterin by rat liver phenylalanine hydroxylase. J Biol Chem 264:8585-8596, 1989
4. Feng GH, Baillin 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 6:7922-7927, 1997
5. Frenk E, Lattion F: The melanin pigmentary disorder in a family with Hermansky Pudlak Syndrome. J Invest Dermatol 78:141-143, 1982
6. Fuse I, Hattori A, Higuchi W: Analysis of platelet shape change, inositol metabolism and Ca-mobilization in patients with platelet dysfunction. Rinsho-Byori 40:287-296, 1992
7. Gerritsen SM, Akkerman J-WN, Nijmejer B, Sixma JJ, Witkop CJ, White J: The Hermansky Pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes. Scand J Haematol 18:249-256, 1977
8. Harada T, Kagamiyama H, Hatakeyama K: Feedback regulatory mechanisms for the control of GTP cyclohydrolase I activity. Science 260:1507-1510, 1993
9. Hardisty RM, Hutton RA: Bleeding tendency associated with "new" abnormality of platelet behaviour. Lancet 1:983-985, 1967
10. Hardisty RM, Mills DCB, Ketsa-Ard K: The platelet defect associated with albinism. Br J Haematol 23:579-592, 1972
11. 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 14:162-169, 1959
12. Kalb VF Jr, Bernlohr RW: A rapid method for protein determination. Anal Biochem 82:362-371, 1977
13. 2+/calmodulin-dependent protein kinase II and protein kinase C of sepiapterin reductase, the terminal enzyme in the biosynthetic pathway of tetrahydrobiopterin. FEBS Lett 341:227-232, 1994
14. 2+-dependent phosphorylation and proteolysis of tetrahydrobiopterin generating enzymes. In: Pfleiderer W, Rokos H (eds). The Chemistry and Biology of Pteridines and Folates. Oxford, Blackwell Science, 1997, pp. 635-638
15. Kerler F, Hültner L, Ziegler I, Katzenmeir G, Bacher A: Analysis of the tetrahydrobiopterin synthesizing system during maturation of murine reticulocytes. J Cell Physiol 142:268-271, 1990
16. King RA, Olds DP: Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. Am J Med Gen 20:49-66, 1985
17. Kugelman TPV, Scott EJ: Tyrosinase activity in melanocytes of human albinos. J Invest Dermatol 37:73-76, 1961
18. Logan LJ, Rapaport SI, Maher BS: Albinism and abnormal platelet function. N Engl J Med 284:1340-1345, 1971
19. Maurer HM, Wolff JA, Buckingam S, Spielvogel AR: "Impotent" platelets in albinos with prolonged bleeding times. Blood 39:490-499, 1972
20. Nagayama R, Hattori A, Fuse I, Takeshige T, Takizawa S, Shibata A: Platelet ionized calcium mobilisation (Aequorin method) in patients with primary platelet dysfunction. Throm Haem 58:528, 1987
21. Nichol CA, Smith GK, Duch DS: Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin. Ann Rev Biochem 54:729-764, 1985
22. Oh J, Baillin TU, Fukai K, et al: Positional cloning of a gene for Hermansky Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet 14:300-306, 1996
23. Pittelkow MR, Shipley JD: Serum-free culture of normal human melanocytes: growth kinetics and growth factor requirements. J Cell Physiol 140:565-576, 1989
24. Prota G: Melanins and Melanogenesis. New York, Academic Press, 1992
25. Schallreuter KU, Pittelkow MR: The regulation of thioredoxin reductase by calcium in Hermansky-Pudlak syndrome. Arch Dermatol Res 281:40-44, 1989
26. Schallreuter KU, Witkop CJ Jr: Thioredoxin reductase activity in Hermansky Pudlak syndrome: A method for identification of putative heterozygotes. J Invest Dermatol 90:372-377, 1988
27. Schallreuter KU, Wood JM: Thioredoxin reductase in control of the pigmentary system. In: Mackie R (ed.). Clinics in Dermatology Disorders of Pigmentation, Vol. 7. Philadelphia, J.B. Lippincott, 1989a, pp. 92-105
28. Schallreuter KU, Wood JM: Calcium regulates thioredoxin reductase in human metastatic melanoma. Biochim Biophys Acta 997:242-247, 1989b
29. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM: Hermansky Pudlak syndrome in a Swiss population. Dermatology 187:248-256, 1993
30. Schallreuter KU, Wood JM, Pittelkow MR, et al: Regulation of melanin biosynthesis in the human epidermis by tetrahydrobiopterin. Science 263:1444-1446, 1994a
31. Schallreuter KU, Wood JM, Ziegler I, Lemke KR, Pittelkow MR, Lindsey NJ, Gütlich M: Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo. Biochim Biophys Acta 1226:181-192, 1994b
32. Schallreuter KU, Büttner G, Pittelkow MR, Wood JM, Swanson NN, Körner C: The cytotoxicity of 6-biopterin to human melanocytes. Biochem Biophys Res Communs 204:43-48, 1994c
33. Schallreuter KU, Schulz-Douglas V, Bünz A, Beazley W, Körner C: Pteridines in the control of pigmentation. J Invest Dermatol 109:31-35, 1997
34. Schallreuter KU, Zschiesche M, Moore J, et al: In vivo evidence for compromised phenylalanine metabolism in vitiligo. Biochem Biophys Res Commun 243:395-399, 1988.
35. Thöny B, Leimbacher W, Scherer-Oppliger T, Heizmann CW, Blau N: Molecular analysis , of tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase mutations: 2-D gel analysis of the in vivo phosphorylation state. In: Pfleiderer W, Rokos H (eds). The Chemistry and Biology of Pteridines and Folates. Oxford, Blackwell Science, 1997, pp. 713-718
36. Weiss HJ, Tschopp TB, Rogers J, Brand H: Studies of platelet 5-hydroxytryptamine (serotonin) in storage pool disease and albinism. J Clin Invest 54:421-432, 1974
37. Wille JJ, Pittelkow MR, Shipley GD, Scott RE: Integrated control of growth and differentiation of normal human prokeratinocytes cultured in serum-free medium: Clonal analyses, growth kinetics and cell cycle studies. J Cell Physiol 121:31-44, 1984
38. Witkop Jr CJ, White RG, King RA: Oculocutaneous albinism. In: Nyhan WL (ed.). Heritable Disorders of Amino Add Metabolism. New York, John Wiley, 1974, p. 177
39. Witkop CJ, Wolfe LS, Stanley X, White JG, Townsend D, Keenan KM: Elevated urinary dolichol excretion in the Hermansky Pudlak syndrome: Indicator of lysosomal dysfunction. Am J Med 82:463-470, 1987
40. Witkop CJ, Nunez Babcock M, Rao GH, et al: Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Assoc Med PR 82:333-339, 1990
41. Wolfe LS, Ng Ying Kin NMK, Baker RR: Batten disease and related disorders: New findings on the chemistry of the storage material. In: Callahan JW, Lowden JA (eds). Lysosomes and Lysosomal Storage Disease. New York, Raven Press, 1981, pp. 315-330
42. Ziegler I, Hültner L: Tetrahydro-6-biopterin is associated with tetrahydro-7-biopterin in primary murine mast cells. FEBS Lett 307:147-150, 1992