Oculocutaneous and ocular pigment defects in man and selected animal models are investigated for their clinical, ophthalmologic, hematologic, otic, biochemical, ultrastructural, genetic, epidemiologic and pleiotropic features to determine the biochemical or dysmorphic basic of these disorders with the objective of improving diagnostic, therapeutic, and counseling means of preventing, ameliorating or treating these disorders. Investigation of unusual kindreds and matings in man are utilized to determine genetic loci, their allelism and linkage relationship and the effect of these genes on morphology and chemistry of pigmentogenesis. Morphologic and chemical methods are used to define specific steps in pigment formation and to determine those defective in hypopigmented disorders and to determine methods of circumventing these blocks. The associated defects in platelets and leukocyte function and storage disease are investigated in Hermansky-Pudlak, Chediak-Higashi and other disorders. The role of melanin in the inner ear in noise trauma, ototoxic drugs and neuronal routing is investigated in animals and man. The effects of treatment of vitiligo by PUVA and prostaglandin inhibitors and the role of prostaglandins in this condition is evaluated. Methods used will analyze all components of the pigment pathway, including: 1) tyrosinase activity and kinetic properties at the tyrosine, dopa and 5,6-dihydroxyindole step; 2) tyrosinase turnover; 3) tyrosinase elelctrophoretic pattern, 4) tyrosine uptake, 5) tyrosine and pathway intermediate compound levels in plasma and urine; 6) glutathione levels in hairbulbs; 7) dopachrome oxidoreductase activity; 8) melanin analysis by electrophoresis, ESR, and chemical assay; 9) hairbulb morphology by EM; and 10) hairshaft morphology after clearing.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
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University of Minnesota Twin Cities
Schools of Dentistry/Oral Hygn
United States
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Oetting, W S; King, R A (1999) Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 13:99-115
Orlow, S J; Brilliant, M H (1999) The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp Eye Res 68:147-54
Oetting, W S; Armstrong, C M; Ronan, S M et al. (1998) Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detection. Electrophoresis 19:3079-83
Sweet, H O; Brilliant, M H; Cook, S A et al. (1998) A new allelic series for the underwhite gene on mouse chromosome 15. J Hered 89:546-51
Wildenberg, S C; Fryer, J P; Gardner, J M et al. (1998) Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. J Invest Dermatol 110:777-81
Oetting, W S; Gardner, J M; Fryer, J P et al. (1998) Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online. Hum Mutat 12:434
Oetting, W S; Fryer, J P; King, R A (1998) Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online. Hum Mutat 12:433-4
Lehman, A L; Nakatsu, Y; Ching, A et al. (1998) A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Proc Natl Acad Sci U S A 95:9436-41
Gardner, J M; Wildenberg, S C; Keiper, N M et al. (1997) The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A 94:9238-43
Puri, N; Durbam-Pierre, D; Aquaron, R et al. (1997) Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. Hum Genet 100:651-6

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