Full Text
The Full Text of this article is available as a PDF (141.7 KB).
Figure 1 .
Biosynthesis of melanin.
Figure 2 .
Photograph of child with oculocutaneous albinism 1A.
Figure 3 .
Photograph of baby with oculocutaneous albinism 3. Note brown colour of hair, a characteristic of this type of albinism. OCA 3 has only been reported in black patients.
Figure 4 .

Photograph of child with Chediak-Higashi syndrome. Note colour of hair.
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Abadi R. V., Dickinson C. M., Pascal E., Papas E. Retinal image quality in albinos. A review. Ophthalmic Paediatr Genet. 1990 Sep;11(3):171–176. doi: 10.3109/13816819009020976. [DOI] [PubMed] [Google Scholar]
- Attié T., Till M., Pelet A., Amiel J., Edery P., Boutrand L., Munnich A., Lyonnet S. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet. 1995 Dec;4(12):2407–2409. doi: 10.1093/hmg/4.12.2407. [DOI] [PubMed] [Google Scholar]
- Baker G. E., Guillery R. W. Evidence for the delayed expression of a brainstem abnormality in albino ferrets. Exp Brain Res. 1989;74(3):658–662. doi: 10.1007/BF00247371. [DOI] [PubMed] [Google Scholar]
- Barbosa M. D., Nguyen Q. A., Tchernev V. T., Ashley J. A., Detter J. C., Blaydes S. M., Brandt S. J., Chotai D., Hodgman C., Solari R. C. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature. 1996 Jul 18;382(6588):262–265. doi: 10.1038/382262a0. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Barrat F. J., Auloge L., Pastural E., Lagelouse R. D., Vilmer E., Cant A. J., Weissenbach J., Le Paslier D., Fischer A., de Saint Basile G. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet. 1996 Sep;59(3):625–632. [PMC free article] [PubMed] [Google Scholar]
- Bassi M. T., Schiaffino M. V., Renieri A., De Nigris F., Galli L., Bruttini M., Gebbia M., Bergen A. A., Lewis R. A., Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995 May;10(1):13–19. doi: 10.1038/ng0595-13. [DOI] [PubMed] [Google Scholar]
- Bergen A. A., Samanns C., Schuurman E. J., van Osch L., van Dorp D. B., Pinckers A. J., Bakker E., Gal A., van Ommen G. J., Bleeker-Wagemakers E. M. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet. 1991 Dec;88(2):162–166. doi: 10.1007/BF00206065. [DOI] [PubMed] [Google Scholar]
- Bergen A. A., Samanns C., Van Dorp D. B., Ferguson-Smith M. A., Gal A., Bleeker-Wagemakers E. M. Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. Ophthalmic Paediatr Genet. 1990 Sep;11(3):165–170. doi: 10.3109/13816819009020975. [DOI] [PubMed] [Google Scholar]
- Boissy R. E., Nordlund J. J. Molecular basis of congenital hypopigmentary disorders in humans: a review. Pigment Cell Res. 1997 Feb-Apr;10(1-2):12–24. doi: 10.1111/j.1600-0749.1997.tb00461.x. [DOI] [PubMed] [Google Scholar]
- Boissy R. E., Zhao H., Oetting W. S., Austin L. M., Wildenberg S. C., Boissy Y. L., Zhao Y., Sturm R. A., Hearing V. J., King R. A. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am J Hum Genet. 1996 Jun;58(6):1145–1156. [PMC free article] [PubMed] [Google Scholar]
- Bouloux P. M., Kirk J., Munroe P., Duke V., Meindl A., Hilson A., Grant D., Carter N., Betts D., Meitinger T. Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. Clin Genet. 1993 Apr;43(4):169–173. doi: 10.1111/j.1399-0004.1993.tb04442.x. [DOI] [PubMed] [Google Scholar]
- Buntinx I. M., Hennekam R. C., Brouwer O. F., Stroink H., Beuten J., Mangelschots K., Fryns J. P. Clinical profile of Angelman syndrome at different ages. Am J Med Genet. 1995 Mar 27;56(2):176–183. doi: 10.1002/ajmg.1320560213. [DOI] [PubMed] [Google Scholar]
- Cassidy S. B. Prader-Willi syndrome. Curr Probl Pediatr. 1984 Jan;14(1):1–55. doi: 10.1016/0045-9380(84)90043-4. [DOI] [PubMed] [Google Scholar]
- Charles S. J., Green J. S., Grant J. W., Yates J. R., Moore A. T. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol. 1993 Apr;77(4):222–227. doi: 10.1136/bjo.77.4.222. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Charles S. J., Moore A. T., Grant J. W., Yates J. R. Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye (Lond) 1992;6(Pt 1):75–79. doi: 10.1038/eye.1992.15. [DOI] [PubMed] [Google Scholar]
- Charles S. J., Moore A. T., Yates J. R. Genetic mapping of X linked ocular albinism: linkage analysis in British families. J Med Genet. 1992 Aug;29(8):552–554. doi: 10.1136/jmg.29.8.552. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Charles S. J., Moore A. T., Zhang Y., McMahon R., Barton D. E., Yates J. R. Carrier detection in X linked ocular albinism using linked DNA polymorphisms. Br J Ophthalmol. 1994 Jul;78(7):539–541. doi: 10.1136/bjo.78.7.539. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Conlee J. W., Parks T. N., Creel D. J. Reduced neuronal size and dendritic length in the medial superior olivary nucleus of albino rabbits. Brain Res. 1986 Jan 15;363(1):28–37. doi: 10.1016/0006-8993(86)90655-4. [DOI] [PubMed] [Google Scholar]
- Conlee J. W., Parks T. N., Romero C., Creel D. J. Auditory brainstem anomalies in albino cats: II. Neuronal atrophy in the superior olive. J Comp Neurol. 1984 May 1;225(1):141–148. doi: 10.1002/cne.902250115. [DOI] [PubMed] [Google Scholar]
- Creel D. J., Conlee J. W., Collier L. L., Prieur D. J. Auditory brainstem responses in cats with Chediak-Higashi syndrome. Acta Otolaryngol. 1994 Jul;114(4):373–375. doi: 10.3109/00016489409126072. [DOI] [PubMed] [Google Scholar]
- Creel D., Conlee J. W., Parks T. N. Auditory brainstem anomalies in albino cats. I. Evoked potential studies. Brain Res. 1983 Jan 31;260(1):1–9. doi: 10.1016/0006-8993(83)90758-8. [DOI] [PubMed] [Google Scholar]
- Creel D., Garber S. R., King R. A., Witkop C. J., Jr Auditory brainstem anomalies in human albinos. Science. 1980 Sep 12;209(4462):1253–1255. doi: 10.1126/science.7403883. [DOI] [PubMed] [Google Scholar]
- Fukai K., Holmes S. A., Lucchese N. J., Siu V. M., Weleber R. G., Schnur R. E., Spritz R. A. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet. 1995 Jan;9(1):92–95. doi: 10.1038/ng0195-92. [DOI] [PubMed] [Google Scholar]
- Fukai K., Oh J., Frenk E., Almodóvar C., Spritz R. A. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet. 1995 Sep;4(9):1665–1669. doi: 10.1093/hmg/4.9.1665. [DOI] [PubMed] [Google Scholar]
- Fukai K., Oh J., Karim M. A., Moore K. J., Kandil H. H., Ito H., Bürger J., Spritz R. A. 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 Sep;59(3):620–624. [PMC free article] [PubMed] [Google Scholar]
- Gahl W. A., Potterf B., Durham-Pierre D., Brilliant M. H., Hearing V. J. Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. Pigment Cell Res. 1995 Oct;8(5):229–233. doi: 10.1111/j.1600-0749.1995.tb00668.x. [DOI] [PubMed] [Google Scholar]
- Gardner J. M., Nakatsu Y., Gondo Y., Lee S., Lyon M. F., King R. A., Brilliant M. H. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science. 1992 Aug 21;257(5073):1121–1124. doi: 10.1126/science.257.5073.1121. [DOI] [PubMed] [Google Scholar]
- Giebel L. B., Spritz R. A. The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. Pigment Cell Res. 1992;Suppl 2:101–106. doi: 10.1111/j.1600-0749.1990.tb00357.x. [DOI] [PubMed] [Google Scholar]
- Giebel L. B., Tripathi R. K., King R. A., Spritz R. A. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest. 1991 Mar;87(3):1119–1122. doi: 10.1172/JCI115075. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hearing V. J., Tsukamoto K. Enzymatic control of pigmentation in mammals. FASEB J. 1991 Nov;5(14):2902–2909. [PubMed] [Google Scholar]
- Hoth C. F., Milunsky A., Lipsky N., Sheffer R., Clarren S. K., Baldwin C. T. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet. 1993 Mar;52(3):455–462. [PMC free article] [PubMed] [Google Scholar]
- Hu F., Hanifin J. M., Prescott G. H., Tongue A. C. Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. Am J Hum Genet. 1980 May;32(3):387–395. [PMC free article] [PubMed] [Google Scholar]
- Hughes A. E., Newton V. E., Liu X. Z., Read A. P. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet. 1994 Aug;7(4):509–512. doi: 10.1038/ng0894-509. [DOI] [PubMed] [Google Scholar]
- Izquierdo N. J., Royuela M. A., Maumenee I. H. Posibles vertientes del gene del síndrome de Hermansky-Pudlak en Puerto Rico. P R Health Sci J. 1993 Jun;12(2):147–148. [PubMed] [Google Scholar]
- Izquierdo N. J., Townsend W., Hussels I. E. Ocular findings in the Hermansky-Pudlak syndrome. Trans Am Ophthalmol Soc. 1995;93:191–202. doi: 10.1016/s0002-9394(14)70555-0. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jackson I. J. A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. Proc Natl Acad Sci U S A. 1988 Jun;85(12):4392–4396. doi: 10.1073/pnas.85.12.4392. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jeffery G., Schütz G., Montoliu L. Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice. Dev Biol. 1994 Dec;166(2):460–464. doi: 10.1006/dbio.1994.1329. [DOI] [PubMed] [Google Scholar]
- Jiménez-Cervantes C., Solano F., Kobayashi T., Urabe K., Hearing V. J., Lozano J. A., García-Borrón J. C. A new enzymatic function in the melanogenic pathway. The 5,6-dihydroxyindole-2-carboxylic acid oxidase activity of tyrosinase-related protein-1 (TRP1). J Biol Chem. 1994 Jul 8;269(27):17993–18000. [PubMed] [Google Scholar]
- KUGELMAN T. P., VAN SCOTT E. J. Tyrosinase activity in melanocytes of human albinos. J Invest Dermatol. 1961 Jul;37:73–76. [PubMed] [Google Scholar]
- King R. A., Witkop C. J., Jr Hairbulb tyrosinase activity in oculocutaneous albinism. Nature. 1976 Sep 2;263(5572):69–71. doi: 10.1038/263069a0. [DOI] [PubMed] [Google Scholar]
- Kobayashi T., Urabe K., Winder A., Jiménez-Cervantes C., Imokawa G., Brewington T., Solano F., García-Borrón J. C., Hearing V. J. Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. EMBO J. 1994 Dec 15;13(24):5818–5825. doi: 10.1002/j.1460-2075.1994.tb06925.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Krautmann P. J., Barenie J. T., Myers D. R. Clinical manifestations of Prader-Willi syndrome. J Pedod. 1981 Spring;5(3):256–261. [PubMed] [Google Scholar]
- Kriss A., Russell-Eggitt I., Taylor D. Childhood albinism. Visual electrophysiological features. Ophthalmic Paediatr Genet. 1990 Sep;11(3):185–192. doi: 10.3109/13816819009020978. [DOI] [PubMed] [Google Scholar]
- LaVail J. H., Nixon R. A., Sidman R. L. Genetic control of retinal ganglion cell projections. J Comp Neurol. 1978 Dec 1;182(3):399–421. doi: 10.1002/cne.901820304. [DOI] [PubMed] [Google Scholar]
- Lee S. T., Nicholls R. D., Bundey S., Laxova R., Musarella M., Spritz R. A. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994 Feb 24;330(8):529–534. doi: 10.1056/NEJM199402243300803. [DOI] [PubMed] [Google Scholar]
- Marcus R. C., Wang L. C., Mason C. A. Retinal axon divergence in the optic chiasm: midline cells are unaffected by the albino mutation. Development. 1996 Mar;122(3):859–868. doi: 10.1242/dev.122.3.859. [DOI] [PubMed] [Google Scholar]
- Meindl A., Hosenfeld D., Brückl W., Schuffenhauer S., Jenderny J., Bacskulin A., Oppermann H. C., Swensson O., Bouloux P., Meitinger T. Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. J Med Genet. 1993 Oct;30(10):838–842. doi: 10.1136/jmg.30.10.838. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Murty V. V., Bouchard B., Mathew S., Vijayasaradhi S., Houghton A. N. Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics. 1992 May;13(1):227–229. doi: 10.1016/0888-7543(92)90228-k. [DOI] [PubMed] [Google Scholar]
- Nagle D. L., Karim M. A., Woolf E. A., Holmgren L., Bork P., Misumi D. J., McGrail S. H., Dussault B. J., Jr, Perou C. M., Boissy R. E. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet. 1996 Nov;14(3):307–311. doi: 10.1038/ng1196-307. [DOI] [PubMed] [Google Scholar]
- Nance W. E., Jackson C. E., Witkop C. J., Jr Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet. 1970 Sep;22(5):579–586. [PMC free article] [PubMed] [Google Scholar]
- Oetting W. S., Brilliant M. H., King R. A. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Aug;2(8):330–335. doi: 10.1016/1357-4310(96)81798-9. [DOI] [PubMed] [Google Scholar]
- 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 Nov;14(3):300–306. doi: 10.1038/ng1196-300. [DOI] [PubMed] [Google Scholar]
- Orlow S. J. Melanosomes are specialized members of the lysosomal lineage of organelles. J Invest Dermatol. 1995 Jul;105(1):3–7. doi: 10.1111/1523-1747.ep12312291. [DOI] [PubMed] [Google Scholar]
- Orlow S. J., Zhou B. K., Chakraborty A. K., Drucker M., Pifko-Hirst S., Pawelek J. M. High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex. J Invest Dermatol. 1994 Aug;103(2):196–201. doi: 10.1111/1523-1747.ep12392743. [DOI] [PubMed] [Google Scholar]
- Puffenberger E. G., Hosoda K., Washington S. S., Nakao K., deWit D., Yanagisawa M., Chakravart A. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell. 1994 Dec 30;79(7):1257–1266. doi: 10.1016/0092-8674(94)90016-7. [DOI] [PubMed] [Google Scholar]
- Puffenberger E. G., Kauffman E. R., Bolk S., Matise T. C., Washington S. S., Angrist M., Weissenbach J., Garver K. L., Mascari M., Ladda R. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet. 1994 Aug;3(8):1217–1225. doi: 10.1093/hmg/3.8.1217. [DOI] [PubMed] [Google Scholar]
- Ramsay M., Colman M. A., Stevens G., Zwane E., Kromberg J., Farrall M., Jenkins T. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet. 1992 Oct;51(4):879–884. [PMC free article] [PubMed] [Google Scholar]
- Rinchik E. M., Bultman S. J., Horsthemke B., Lee S. T., Strunk K. M., Spritz R. A., Avidano K. M., Jong M. T., Nicholls R. D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993 Jan 7;361(6407):72–76. doi: 10.1038/361072a0. [DOI] [PubMed] [Google Scholar]
- Schiaffino M. V., Bassi M. T., Galli L., Renieri A., Bruttini M., De Nigris F., Bergen A. A., Charles S. J., Yates J. R., Meindl A. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet. 1995 Dec;4(12):2319–2325. doi: 10.1093/hmg/4.12.2319. [DOI] [PubMed] [Google Scholar]
- Schnur R. E., Nussbaum R. L., Anson-Cartwright L., McDowell C., Worton R. G., Musarella M. A. Linkage analysis in X-linked ocular albinism. Genomics. 1991 Apr;9(4):605–613. doi: 10.1016/0888-7543(91)90353-g. [DOI] [PubMed] [Google Scholar]
- Schnur R. E., Wick P. A., Bailey C., Rebbeck T., Weleber R. G., Wagstaff J., Grix A. W., Pagon R. A., Hockey A., Edwards M. J. Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Am J Hum Genet. 1994 Sep;55(3):484–496. [PMC free article] [PubMed] [Google Scholar]
- Shiono T., Tsunoda M., Chida Y., Nakazawa M., Tamai M. X linked ocular albinism in Japanese patients. Br J Ophthalmol. 1995 Feb;79(2):139–143. doi: 10.1136/bjo.79.2.139. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Spritz R. A. Molecular genetics of oculocutaneous albinism. Semin Dermatol. 1993 Sep;12(3):167–172. [PubMed] [Google Scholar]
- Spritz R. A. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994;3(Spec No):1469–1475. doi: 10.1093/hmg/3.suppl_1.1469. [DOI] [PubMed] [Google Scholar]
- Sretavan D. W., Feng L., Puré E., Reichardt L. F. Embryonic neurons of the developing optic chiasm express L1 and CD44, cell surface molecules with opposing effects on retinal axon growth. Neuron. 1994 May;12(5):957–975. doi: 10.1016/0896-6273(94)90307-7. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sretavan D. W., Puré E., Siegel M. W., Reichardt L. F. Disruption of retinal axon ingrowth by ablation of embryonic mouse optic chiasm neurons. Science. 1995 Jul 7;269(5220):98–101. doi: 10.1126/science.7541558. [DOI] [PubMed] [Google Scholar]
- Sunohara N., Sakuragawa N., Satoyoshi E., Tanae A., Shapiro L. J. A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. Ann Neurol. 1986 Feb;19(2):174–181. doi: 10.1002/ana.410190211. [DOI] [PubMed] [Google Scholar]
- Tassabehji M., Newton V. E., Read A. P. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet. 1994 Nov;8(3):251–255. doi: 10.1038/ng1194-251. [DOI] [PubMed] [Google Scholar]
- Tassabehji M., Read A. P., Newton V. E., Harris R., Balling R., Gruss P., Strachan T. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature. 1992 Feb 13;355(6361):635–636. doi: 10.1038/355635a0. [DOI] [PubMed] [Google Scholar]
- Tresidder J., Fielder A. R., Nicholson J. Delayed visual maturation: ophthalmic and neurodevelopmental aspects. Dev Med Child Neurol. 1990 Oct;32(10):872–881. [PubMed] [Google Scholar]
- Uyama E., Hirano T., Ito K., Nakashima H., Sugimoto M., Naito M., Uchino M., Ando M. Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand. 1994 Mar;89(3):175–183. doi: 10.1111/j.1600-0404.1994.tb01657.x. [DOI] [PubMed] [Google Scholar]
- Wapenaar M. C., Bassi M. T., Schaefer L., Grillo A., Ferrero G. B., Chinault A. C., Ballabio A., Zoghbi H. Y. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993 Jul;2(7):947–952. doi: 10.1093/hmg/2.7.947. [DOI] [PubMed] [Google Scholar]
- Wildenberg S. C., Oetting W. S., Almodóvar C., Krumwiede M., White J. G., King R. A. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet. 1995 Oct;57(4):755–765. [PMC free article] [PubMed] [Google Scholar]
- Winder A., Kobayashi T., Tsukamoto K., Urabe K., Aroca P., Kameyama K., Hearing V. J. The tyrosinase gene family--interactions of melanogenic proteins to regulate melanogenesis. Cell Mol Biol Res. 1994;40(7-8):613–626. [PubMed] [Google Scholar]
- Winship I. M., Babaya M., Ramesar R. S. X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. Genomics. 1993 Nov;18(2):444–445. doi: 10.1006/geno.1993.1495. [DOI] [PubMed] [Google Scholar]
- Witkop C. J., Almadovar C., Piñeiro B., Nuñez Babcock M. Hermansky-Pudlak syndrome (HPS). An epidemiologic study. Ophthalmic Paediatr Genet. 1990 Sep;11(3):245–250. doi: 10.3109/13816819009020986. [DOI] [PubMed] [Google Scholar]
- Witkop C. J., Nuñez Babcock M., Rao G. H., Gaudier F., Summers C. G., Shanahan F., Harmon K. R., Townsend D., Sedano H. O., King R. A. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R. 1990 Aug;82(8):333–339. [PubMed] [Google Scholar]
- Zhao H., Boissy R. E. Distinguishing between the catalytic potential and apparent expression of tyrosinase activities. Am J Med Sci. 1994 Dec;308(6):322–330. doi: 10.1097/00000441-199412000-00003. [DOI] [PubMed] [Google Scholar]
- Zhao H., Boissy Y. L., Abdel-Malek Z., King R. A., Nordlund J. J., Boissy R. E. On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. Lab Invest. 1994 Jul;71(1):25–34. [PubMed] [Google Scholar]
- Zhao H., Eling D. J., Medrano E. E., Boissy R. E. Retroviral infection with human tyrosinase-related protein-1 (TRP-1) cDNA upregulates tyrosinase activity and melanin synthesis in a TRP-1-deficient melanoma cell line. J Invest Dermatol. 1996 Apr;106(4):744–752. doi: 10.1111/1523-1747.ep12345799. [DOI] [PubMed] [Google Scholar]
- Zhao H., Zhao Y., Nordlund J. J., Boissy R. E. Human TRP-1 has tyrosine hydroxylase but no dopa oxidase activity. Pigment Cell Res. 1994 Jun;7(3):131–140. doi: 10.1111/j.1600-0749.1994.tb00040.x. [DOI] [PubMed] [Google Scholar]



