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Genetic Disorders of Pigmentation

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Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 22))

Abstract

Disorders of pigmentation were among the first genetic disorders recognized in humans. The distinctive phenotypes of oculocutaneous albinism (OCA) and piebaldism were known to the ancient Greeks and Romans, and the typical clinical features, modes of inheritance, and genetic heterogeneity of these disorders are apparent even in classical descriptions (Lucian, 1905; Pliny, 1942; Gellius, 1952). Similar phenotypes were recognized early in the mouse, and the availability of inbred lines carrying characterized mutations has made the mouse an invaluable tool for studies of genetic disorders of pigmentation. Absent catalytic activity of tyrosinase in the skin of albino animals was one of the first enzymatic deficiencies recognized (Durham, 1904), and as early as 1908 Garrod suggested that albinism might be an inborn error of metabolism (Garrod, 1908).

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References

  • Andria, G., Ballabio, A., and Parenti, G., 1987, X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia, Ann. Neurol. 22:98.

    PubMed  CAS  Google Scholar 

  • Ariturk, E., Tosyali, N., and Ariturk, N., 1992, A case of Waardenburg syndrome and aganglionosis, Turk. J. Pediatr. 34:111–114.

    PubMed  CAS  Google Scholar 

  • Asher, J.H., Jr., Morell, R., and Friedman, T.B., 1991, Waardenburg syndrome (WS): The analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q, Am. J. Hum. Genet. 48:43–52.

    PubMed  Google Scholar 

  • Baldwin, C.T., Hoth, C.F., Amos, J. A., Da Silva, E.O., and Milunsky, A., 1992, An exonic mutation in the HuP2 paired domain gene causes Waardenburg syndrome, Nature 355:637–638.

    PubMed  CAS  Google Scholar 

  • Barr, F.G., Galili, N., Holick, J., Biegelo, J.A., Rovera, G., and Emanuel, B.S., 1993, Rearrangement of the PAX3 paired box gene in the pediatric solid tumor alveolar rhabdomyosarcoma, Nature Genetics 3:113–117.

    PubMed  CAS  Google Scholar 

  • Bennett, D.C., 1991, Color genes, oncogenes and melanocyte differentiation, J. Cell. Sci. 98:135–139.

    PubMed  CAS  Google Scholar 

  • Bennett, D.C., Huszar, D., Laipis, P.J., Jaenisch, R., and Jackson, I.J., 1990, Phenotypic rescue of mutant brown melanocytes by a retrovirus carrying a wild type tyrosinase-related protein gene, Development 110:471–475.

    PubMed  CAS  Google Scholar 

  • Bergen, A.A.B., Sammans, C., Van Dorp, D.B., Ferguson-Smith, M.A., Gal, A., and Bleeker-Wagemakers, E.M., 1990, Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis, Ophthalmic Pediatr. Genet. 11:165–170.

    CAS  Google Scholar 

  • Bergen, A.A.B., Samanns, C., Schuurman, E.J.M., Van Osch, L., Van Dorp, D.B., Pinckers, A.J.L.G., Bakker, E., Gal, A., Van Ommen, G.J.B., and Bleeker-Wagemakers, E.M., 1991, Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type, Hum. Genet. 88:162–166.

    PubMed  CAS  Google Scholar 

  • Bergleiter, M.L., and Harris, D.J., 1992, Waardenburg syndrome and meningocele, Am. J. Med. Genet. 44:541.

    Google Scholar 

  • Besmer, P., Murphy, J.E., George, P.C., Qiu, F., Bergold, P.J., Lederman, L., Snyder, H.W., Jr., Brodeur, D., Zuckerman, E.E., and Hardy, W.S., 1986, A new acute transforming feline retrovirus and the relationship of its oncogene v-kit with the protein kinase gene family, Nature 320:415–421.

    PubMed  CAS  Google Scholar 

  • Boissy, R.E., Zhao, H., Austin, L.M., Nordlund, J.J., and King, R.A., 1993, Melanocytes from an individual with brown oculocutaneous albinism lack expression of TRP-1, the product of the human homolog of the murine brown locus, Am. J. Hum. Genet. 53(Suppl.):160.

    Google Scholar 

  • Breathnach, A.S., Fitzpatrick, T.B., and Wyllie, L.M.A., 1965, Electron microscopy of melanocytes in a case of human piebaldism, J. Invest. Dermatol. 45:28–37.

    PubMed  CAS  Google Scholar 

  • Bultman, S.J., Michaud, E.J., and Woychik, R.P., 1992, Molecular characterization of the mouse agouti locus, Cell 71:1195–1204.

    PubMed  CAS  Google Scholar 

  • Bultman, S.J., Klebig, M.L., Michaud, E., Sweet, H.O., Davisson, M.T., and Woychik, R.P., 1994, Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a t) and white-bellied agouti (A W) reveals alternative forms of agouti transcripts, Genes Dev. 8:481–490.

    PubMed  CAS  Google Scholar 

  • Burri, M., Tromvoukis, Y., Bopp, D., Frigerio, G., and Noll, M., 1989, Conservation of the paired domain in metazoans and its structure in three isolated human genes, EMBO J. 8:1183–1190.

    PubMed  CAS  Google Scholar 

  • Butler, M.G., 1989, Hypopigmentation: A common feature of Prader-Labhart-Willi syndrome, Am. J. Hum. Genet. 45:140–146.

    PubMed  CAS  Google Scholar 

  • Camakaris, J., Danks, D.M., Ackland, L., Cartwright, E., Borger, P., and Cotton, R.G.H., 1980, Altered copper metabolism in cultured cells from human Menkes’ syndrome and mottled mouse mutants, Biochem. Genet. 18:117–131.

    PubMed  CAS  Google Scholar 

  • Carezani-Gavin, M., Slarren, S.K., and Steege, T., 1992, Waardenburg syndrome associated with meningomyelocele, Am. J. Med. Genet. 42:135.

    PubMed  CAS  Google Scholar 

  • Chabot, B., Stephenson, D.A., Chapman, V.M., Besmer, P., and Bernstein, A., 1988, The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus, Nature 335:88–90.

    PubMed  CAS  Google Scholar 

  • Chakraborty, A.K., and Pawelek, J.M., 1991, Evidence that DOPAchrome conversion factor is a metalloenzyme, Pigment Cell Res. 4:132–133.

    Google Scholar 

  • Chakraborty, A.K., Orlow, S.J., and Pawelek, J.M., 1992, Evidence that DOPAchrome tautomerase is a ferrous iron-binding glycoprotein, FEBS Lett. 302:126–128.

    PubMed  CAS  Google Scholar 

  • Charles, S.J., Moore, A.T., and Yates, J.R.W, 1992, Genetic mapping of X-linked ocular albinism: Linkage analysis in British families, J. Med. Genet. 29:552–554.

    PubMed  CAS  Google Scholar 

  • Chatkupt, S., Chatkupt, S., and Johnson, W.G., 1993, Waardenburg syndrome and myelomeningocele in a family, J. Med. Genet. 30:83–84.

    PubMed  CAS  Google Scholar 

  • Chelly, J., Turner, Z., Tonnesen, T., Petterson, A., Ishikawa-Brudh, Y., Tommerup, N., Horn, N., and Monaco, A.P., 1993, Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein, Nature Genetics 3:14–19.

    PubMed  CAS  Google Scholar 

  • Chintamaneni, C.D., Halaban, R., Kobayashi, Y., Witkop, C.J., Jr., and Kwon, B.S., 1991a, A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism, Proc. Natl. Acad. Sci. USA 88:5272–5276.

    PubMed  CAS  Google Scholar 

  • Chintamaneni, C.D., Ramsay, M., Colman, M.A., Fox, M.F., Pickard, R.T., and Kwon, B.S., 1991b, Mapping the human CAS2 gene, the homolog of the mouse brown (b) locus, to human chromosome 9p22-pter, Biochem. Biophys. Res. Commun. 178:227–235.

    PubMed  CAS  Google Scholar 

  • Cohen, T., Muller, R.M., Tomita, Y., and Shibahara, S., 1990, Nucleotide sequence of the cDNA encoding human tyrosinase-related protein, Nucl. Acids Res. 18:2807–2808.

    PubMed  CAS  Google Scholar 

  • Cooke, J.V., 1952, Familial white skin spotting (piebaldness) (‘partial albinism’) with white forelock, J. Pediatr. 41:1–12.

    PubMed  CAS  Google Scholar 

  • Copeland, N.G., Gilbert, D.J., Cho, B.C., Donovan, P.J., Jenkins, N.A., Cosman, D., Anderson, D., Lyman, S.D., and Williams, D.E., 1990, Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles, Cell 63:175–183.

    PubMed  CAS  Google Scholar 

  • Currie, A.B.M., Haddad, M., Honeyman, M., and Boddy, S-A.M., 1986, Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung’s disease-Waardenburg’s syndrome, J. Pediatr. Surg. 21:248–250.

    Google Scholar 

  • d’Auriol, L., Mattei, M.G., Andre, C., and Galibert, F., 1988, Localization of the human c-kit protooncogene on the q11–q12 region of chromosome 4, Hum. Genet. 78:374–376.

    PubMed  Google Scholar 

  • DiGeorge, A.M., Olmsted, R.W., and Harley, R.D., 1960, Waardenburg syndrome, J. Pediatr. 57:649–669.

    PubMed  CAS  Google Scholar 

  • Dubreuil, P., Forrester, L., Rottapel, R., Reedijk, M., Fujita, J., and Bernstein, A., 1991, The c-fms gene complements the mitogenic defect in mast cells derived from mutant W mice but not mi (microphthalmia) mice, Proc. Natl. Acad. Sci. USA 88:2341–2345.

    PubMed  CAS  Google Scholar 

  • Duhl, D.M.J., Vrieling, H., Stevens, M.E., Saxon, P.J., Miller, M.W., Epstein, C.J., and Barsh, G.S., 1994, Pleiotropic effects of the mouse lethal yellow (A y) mutation explained by deletion of a maternally expressed gene and the simultaneous production of agouti fusion RNAs, Development, in press.

    Google Scholar 

  • Durham, E.M., 1904, On the presence of tyrosinases in the skins of some pigmented vertebrates, Proc. R. Soc. (Lond.) 74:310–313.

    CAS  Google Scholar 

  • Durham-Pierre, D., Gardner, J.M., Nakatsu, Y., King, R.A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., and Brilliant, M.H.(1994). African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nature Genet. 7:176–179.

    PubMed  CAS  Google Scholar 

  • Epstein, D.I, Vekemans, M., and Gros, R 1991, Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3, Cell 67:767–774.

    PubMed  CAS  Google Scholar 

  • Epstein, D.I, Vogan, K.J., Trasler, D.G., and Gros, P., 1993, A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant, Proc. Natl. Acad. Sci. USA 90:532–536.

    PubMed  CAS  Google Scholar 

  • Farrer, L.A., Grundfast, K.M., Amos, J., Arnos, K.S., Asher, J.H., Jr., Beighton, P., Diehl, S.R., Fex, J., Foy, C., Friedman, T.B., Greenberg, J., Hoth, C., Marazita, M., Milunsky, A., Morell, R., Nance, W., Newton, V., Ramesar, R., San Agustin, T.B., Skare, I, Steens, C.A., Wagner, R.G., Jr., Wilcox, E.R., Winship, I., and Read, A.P., 1992, Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium, Am. J. Hum. Genet. 50:902–913.

    PubMed  CAS  Google Scholar 

  • Fitzpatrick, T.B., 1981, Biology and Diseases of Dermal Pigmentation, pp.3–18, University of Tokyo Press, Tokyo.

    Google Scholar 

  • Flanagan, J.G., and Leder, P., 1990, The kit ligand: A cell surface molecule altered in steel mutant fibroblasts, Cell 63:185–194.

    PubMed  CAS  Google Scholar 

  • Fleischman, R.A., Saltman, D.L., Stastny, V., and Zneimer, S., 1991, Deletion of the c-kit proto-oncogene in the human developmental defect piebald trait, Proc. Natl. Acad. Sci. USA 88:10885–10889.

    PubMed  CAS  Google Scholar 

  • Fleischman, R.A., 1992, Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene, J. Clin. Invest. 89:1713–1717.

    PubMed  CAS  Google Scholar 

  • Foy, C., Newton, V.E., Wellesley, D., Harris, R., and Read, A.P., 1990, Assignment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse, Am. J. Hum. Genet. 46:1017–1023.

    PubMed  CAS  Google Scholar 

  • Froggat, P., 1951, An outline with bibliography of human piebaldism, Ir. J. Med. Sci. 398:86–94.

    Google Scholar 

  • Funderburk, S.I, and Crandall, B.F., 1974, Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion, Am. J. Hum. Genet. 26:715–722.

    PubMed  CAS  Google Scholar 

  • Gantz, I., Miwa, H., Konda, Y., Shimoto, Y., Tashiro, T., Watson, S.J., DelValle, J., and Yamada, T., 1993, Molecular cloning, expression, and gene localization of a fourth melanocortin receptor, J. Biol. Chem. 268:15174–15179.

    PubMed  CAS  Google Scholar 

  • Gardner, J.M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M.F., King, R.A., and Brilliant, M.H., 1992, The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes, Science 257:1121–1124.

    PubMed  CAS  Google Scholar 

  • Garrod, A.E., 1908, The Croonian lectures on inborn errors of metabolism: Lecture I, Lancet 2:1–7.

    CAS  Google Scholar 

  • Geissler, E.N., Ryan, M.A., Housman, D.E., 1988, The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene, Cell 55:185–192.

    PubMed  CAS  Google Scholar 

  • Gellius, 1952, The Attic Nights of Aulus Gellius, Book 9 (J.C. Rolfe, trans.), Harvard University Press, Cambridge.

    Google Scholar 

  • Gershoni-Baruch, R., Rosenmann, A., Droetto, S., Holmes, S., Tripathi, R.K., Spritz, R.A., 1994, Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel, Am. J. Hum. Genet. 54:586–594.

    PubMed  CAS  Google Scholar 

  • Giebel, L.B., and Spritz, R.A., 1990, RFLP for Mbol in the human tyrosinase (TYR) gene detected by PCR, Nucl. Acids Res. 18:3103.

    PubMed  CAS  Google Scholar 

  • Giebel, L.B., and Spritz, R.A., 1991, Mutation of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism, Proc. Natl. Acad. Sci. USA 88:8696–8699.

    PubMed  CAS  Google Scholar 

  • Giebel, L.B., Strunk, K.M., King, R.A., Hanifin, I.M., and Spritz, R.A., 1990, A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism, Proc. Natl. Acad. Sci. USA 87:3255–3258.

    PubMed  CAS  Google Scholar 

  • Giebel, L.B., Musarella, M.A., and Spritz, R.A., 1991a, A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism, J. Med. Genet. 28:464–467.

    PubMed  CAS  Google Scholar 

  • Giebel, L.B., Strunk, K.M., and Spritz, R.A., 1991b, Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment, Genomics 9:435–445.

    PubMed  CAS  Google Scholar 

  • Giebel, L.B., Tripathi, R.K., King, R.A., and Spritz, R.A., 1991c, 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. 87:1119–1122.

    PubMed  CAS  Google Scholar 

  • Giebel, L.B., Tripathi, R.K., Strunk, K.M., Hanifin, J.M., Jackson, C.E., King, R.A., and Spritz, R.A., 1991d, Tyrosinase gene mutations associated with type IB (“yellow”) oculocutaneous albinism, Amer. J. Hum. Gen. 48:1159–1167.

    CAS  Google Scholar 

  • Giebel, L.B., Strunk, K.M., Holmes, S.A., and Spritz, R.A., 1992, Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene, Oncogene 7:2207–2217.

    PubMed  CAS  Google Scholar 

  • Goulding, M.D., Chalepakis, G., Deutsch, U., Erselius, J.R., and Gruss, P., 1991, Pax-3, a novel murine DNA binding protein expressed during early neurogenesis, EMBO J. 10:1135–1147.

    PubMed  CAS  Google Scholar 

  • Goulding, M.D., Sterrer, S., Fleming, J., and Balling, R., 1993, Analysis of the Pax-3 gene in the mouse mutant splotch, Genomics 17:355–363.

    PubMed  CAS  Google Scholar 

  • Hearing, V.J., and King, R.A., 1994, Determinants of skin color: Melanocytes and melanization. In: Pigmentation and Pigmentary Abnormalities (N. Levine, ed.), pp.3–18, CRC Press, New York.

    Google Scholar 

  • Hearing, V.J., and Tsukamoto, K., 1991, Enzymatic control of pigmentation in mammals, FASEB J. 5:2902–2909.

    PubMed  CAS  Google Scholar 

  • Hearing, V.J., Tsukamoto, K., Urabe, K., Kameyama, K., Montague, R.M., and Jackson, I.J., 1992, Functional properties of cloned melanogenic proteins, Pigment Cell Res. 5:264–270.

    PubMed  CAS  Google Scholar 

  • Hodgkinson, C.A., Moore, K.J., Nakayama, A., Steingrimsson, E., Copeland, N.G., Jenkins, N.A., and Arnheiter, H., 1993, Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein, Cell 74:395–404.

    PubMed  CAS  Google Scholar 

  • Holstein, T.J., Fung, R.Q., Quevedo, W.C.J., and Bienieki, T.C., 1979, Effect of altered copper metabolism induced by mottled alleles and diet on mouse tyrosinase, Proc. Soc. Exp. Biol. Med. 162:264–268.

    PubMed  CAS  Google Scholar 

  • Hoo, J.J., Haslam, R.H.A., and van Orman, C., 1986, Tentative assignment of piebald trait gene to chromosome band 4q12, Hum. Genet. 73:230–231.

    PubMed  CAS  Google Scholar 

  • Hoth, C.F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S.K., and Baldwin, C.T., 1993, Mutations in the paired domain of the human PAX-3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS1), Am. J. Hum. Genet. 52:455–462.

    PubMed  CAS  Google Scholar 

  • Hu, F., Hanifin, J.M., Prescott, G.H., and Tongue, A.C., 1980, Yellow mutant albinism: Cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism, Am. J. Hum. Genet. 32:387–395.

    PubMed  CAS  Google Scholar 

  • Huang, E., Nocka, K., Beler, D.R., Chu, T.Y., Buck, J., Lahm, H.W., Wellner, D., Leder, P., and Besmer, P., 1990, The hematopoietic growth factor KL is encoded by the S1 locus and is the ligand of the c-kit receptor, the gene product of the W locus, Cell 63:225–233.

    PubMed  CAS  Google Scholar 

  • Hughes, A.E., Newton, V.E., Liu, X.Z., Read, A.P., 1994, A gene for Waardenburg syndrome type 2 maps close to the human homolog of the micropthalmia gene at chromosome 3p12–p14.1, Nature Genetics 7:509–512.

    PubMed  CAS  Google Scholar 

  • Ishikiriyama, S., Tonoki, H., Shibuya, Y., Chin, S., Harada, N., Abe, K., and Niikawa, N., 1989, Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3), Am. J. Med. Genet. 33:505–507.

    PubMed  CAS  Google Scholar 

  • Ito, M., Hashimoto, K., and Organisciak, D.T., 1982, Ultrastructural, histochemical and biochemical studies of the melanin metabolism in pallid mouse eye, Curr. Eye Res. 2:13–28.

    PubMed  CAS  Google Scholar 

  • Jackson, I.J., 1988, A cDNA encoding tyrosinase-related protein maps to the brown locus in mice, Proc. Natl. Acad. Sci. USA 85:4392–4396.

    PubMed  CAS  Google Scholar 

  • Jackson, I.J., Chambers, D.M., Tsukamoto, K., Copeland, N.G., Gilbert, D.J., Jenkins, N.A., and Hearing, V.J., 1992, A second tyrosinase-related protein, TRP2, maps to and is mutated at the mouse slaty locus, EMBO J. 11:527–535.

    PubMed  CAS  Google Scholar 

  • Jimbow, K., Fitzpatrick, T.B., Szabo, G., and Hori, Y., 1975, Congential circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism, J. Invest. Dermatol. 64:50–62.

    PubMed  CAS  Google Scholar 

  • Jimbow, K., Yamana, K., Akutsu, Y., and Maeda, K., 1988, Nature and biosynthesis of structural matrix protein in melanosomes: melanosomal structural protein as differentiation antigen for neoplastic melanocytes, Prog. Clin. Biol. Res. 256:169–182.

    PubMed  CAS  Google Scholar 

  • Jiminez-Cervantes, C., Solano, F., Kobayashi, T., Urabe, K., Hearing, V.J., Lozano, J.A., and García-Borrón, J.C., 1994, A new enzymatic function in the melanogenic pathway. J. Biol. Chem. 269:17993–18001.

    Google Scholar 

  • Kameyama, K., Takemura, T., Hamada, Y., Sakai, C., Kondoh, S., Nishiyama, S., Urabe, K., and Hearing, V.J., 1993, Pigment production in murine melanoma cells is regulated by tyrosinase, tyrosinase-related protein 1 (TRP1), DOPAchrome tautomerase (TRP2) and a melanogenic inhibitor, J. Invest. Dermatol. 100:126–131.

    PubMed  CAS  Google Scholar 

  • Kawamura, K., Fitzpatrick, T.B., and Seiji, M., 1971, Biology of Normal and Abnormal Melanocytes, University Park Press, Baltimore, pp. 1–411.

    Google Scholar 

  • Kedda, M.A., Stevens, G., Manga, P., Viljoen, C., Jenkins, T., and Ramsay, M., 1994, The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11–q13 and evidence of multiple mutations in South African Negroids, Am. J. Hum. Genet. 54:1078–1084.

    PubMed  CAS  Google Scholar 

  • Keeler, C.E., 1934, The heredity of a congenital white spotting in Negroes, J. Am. Med. Assoc. 103:179–180.

    Google Scholar 

  • Kikuchi, H., Hara, S., Ishiguro, S., Tamai, M., and Watanabe, M., 1990, Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA, Hum. Genet. 85:123–124.

    PubMed  CAS  Google Scholar 

  • King, R.A., Mentink, M.M., and Oetting, W.S., 1991, Nonrandom distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism, Mol. Biol. Med. 8:19–29.

    PubMed  CAS  Google Scholar 

  • Kirkpatrick, S.J., Kent, C.M., Laxova, R., and Sekhon, G.S., 1992, Waardenburg syndrome type I in a child with deletion (2)(q35q36.2), Am. J. Med. Genet. 44:699–700.

    PubMed  CAS  Google Scholar 

  • Korner, A.M., and Pawelek, J., 1982, Mammalian tyrosinase catalyzes three reactions in the bio-synthesis of melanin, Science 217:1163–1165.

    PubMed  CAS  Google Scholar 

  • Kromberg, J.G.R., and Krause, A., 1993, Waardenburg syndrome and spina bifida, Am. J. Med. Genet. 45:536–537.

    PubMed  CAS  Google Scholar 

  • Kugelman, T.P., and van Scott, E.J., 1961, Tyrosinase activity in melanocytes of human albinos, J. Invest. Dermatol. 37:73–76.

    PubMed  CAS  Google Scholar 

  • Kwon, B.S., Halaban, R., Kim, G.S., Usack, L., Pomerantz, S.H., and Haq, A.K., 1987a, A melanocyte-specific complementary DNA clone whose expression is inducible by melanotropin and isobutylmethyl xanthine, Mol. Biol. Med. 4:339–355.

    PubMed  CAS  Google Scholar 

  • Kwon, B.S., Haq, A.K., Pomerantz, S.H., and Halaban, R., 1987b, Isolation and sequence of a putative cDNA clone for human tyrosinase that maps at the mouse c-albino locus, Proc. Natl. Acad. Sci. USA 84:7473–7477.

    PubMed  CAS  Google Scholar 

  • Kwon, B.S., Chintamaneni, C.D., Kozak, C.A., Copeland, N.G., Gilbert, D.J., Jenkins, N.A., Barton, D.E., Francke, U., Kobayashi, Y., and Kim, K.K., 1991, A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12, Proc. Natl. Acad. Sci. USA 88:9228–9232.

    PubMed  CAS  Google Scholar 

  • Lacassie, Y., Thurmon, T.F., Tracy, M.D., and Pelias, M.Z., 1977, Piebald trait in a retarded child with interstitial deletion of chromosome 4, Am. J. Hum. Genet. 29:641–642.

    PubMed  CAS  Google Scholar 

  • Lamoreux, M.L., Boissy, R.E., Womack, J.E., and Nordlund, J.J., 1992, The vit gene maps to the Mi (Microphthalmia) locus of the laboratory mouse, J. Hered. 83:435–439.

    PubMed  CAS  Google Scholar 

  • Lee, S.-T., Nichols, R.D., Jong, M.T.C., and Spritz, R.A, 1994a, Organization and sequence of the human P gene and identification of a new family of transport pump proteins, Genomics, in press.

    Google Scholar 

  • Lee, S-T., Strunk, K.M., Bundey, S., Laxova, R., Musarella, M., and Spritz, R.A., 1994b, Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism, New Engl. J. Med. 330:529–534.

    PubMed  CAS  Google Scholar 

  • Lee, S.-T., Nicholls, R.D., Schnur, R.E., Guida, L.C., Lu-Kuo, J., Spinner, N.B., Zackai, E.H., and Spritz, R.A., 1994c, Diverse mutations of the P gene among African-Americans with type II (tyrosine-positive) oculocutaneous albinism (OCA2). Hum. Molec. Genet., in press.

    Google Scholar 

  • Lerch, K., 1988, Protein and active-site structure of tyrosinase, Adv. Pigment Cell Res. Prog. Clin. Biol. Res. 256:85–98.

    CAS  Google Scholar 

  • Lerner, A.B., Fitzpatrick, T.B., 1950, Biochemistry of melanin formation, Physiol. Rev. 30:91–126.

    PubMed  CAS  Google Scholar 

  • Lerner, A.B., Fitzpatrick, T.B., Calkins, E., Summerson, W.H., 1949, Mammalian tyrosinase: Preparation and properties, J. Biol. Chem. 178:185–195.

    PubMed  CAS  Google Scholar 

  • Lev, S., Yarden, Y., and Givol, D., 1992, Dimerization and activation of the kit receptor by monovalent and bivalent binding of the stem cell factor, J. Biol. Chem. 267:15970–15977.

    PubMed  CAS  Google Scholar 

  • Lucian, 1905, The Works of Lucian of Samosata, Vol.1 [Fowler, H.W., trans.], Clarendon Press, Oxford.

    Google Scholar 

  • Lu-Kuo, J., Ward, D.C., and Spritz, R.A., 1993, Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene), Genomics 16:173–179.

    PubMed  CAS  Google Scholar 

  • Lyon, M., and Searle, A.G., 1989, Genetic Variants and Strains of the Laboratory Mouse, Oxford University Press, Oxford.

    Google Scholar 

  • Magenis, R.E., Smith, L., Nadeau, H.J., Johnson, K.R., Mountjoy, K.G., and Cone, R.D., 1994, Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human, Genomics, in press.

    Google Scholar 

  • Martinez, J.H., Solano, F., Garcia-Borron, J.C., Iborra, J.L., and Lozano, J.A., 1985, The involvement of histidine at the active site of Harding-Passey mouse melanoma tyrosinase, Biochem. Int. 11:729–738.

    PubMed  CAS  Google Scholar 

  • Martorana, P.A., Brand, T., Gardi, C., and van Even, P., 1993, The pallid mouse. A model of genetic α1-antitrypsin deficiency, Lab. Invest. 68:233–241.

    PubMed  CAS  Google Scholar 

  • Mercer, J.A., Seperack, P.K., Strobel, M.C., Copeland, N.G., and Jenkins, N.A., 1991, Novel myosin heavy chain encoded by murine dilute coat color locus, Nature 349:709–713.

    PubMed  CAS  Google Scholar 

  • Mercer, J.F.B., Livingston, J., Hall, B., Paynter, J.A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., and Glover, T.W., 1993, Isolation of a partial candidate gene for Menkes disease by positional cloning, Nature Genetics 3:20–25.

    PubMed  CAS  Google Scholar 

  • Michaud, E.J., Bultman, S.J., Klebig, M.L., van Vugt, M.J., Stubbs, L.J., Russell, L.B., and Woychik, R.P., 1994, A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (A y) mutation, Proc. Natl. Acad. Sci. USA 91:2562–2566.

    PubMed  CAS  Google Scholar 

  • Miller, M.W., Duhl, D.M.J., Vrieling, H., Cordes, S.P., Ollmann, M.M., Winkes, B.M., and Barsh, G.S., 1993, Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation, Genes and Dev. 7:454–467.

    PubMed  CAS  Google Scholar 

  • Miller, M.W., Winkes, B.M., Duhl, D.M.J., Arredondo-Vega, F., Saxon, P.J., Wolff, G.L., Epstein, C.J., Hershfield, M.S., and Barsh, G.S., 1994, The mouse lethal nonagouti (a x) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene, EMBO J. 13:1806–1816.

    PubMed  CAS  Google Scholar 

  • Mishima, Y., 1992, A post-melanosomal era: control of melanogenesis and melanoma growth, Pigment Cell Res. (Suppl. 2):3–16.

    PubMed  CAS  Google Scholar 

  • Moase, C.E., and Trasler, D.G., 1992, Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans, J. Med. Genet. 29:145–151.

    PubMed  CAS  Google Scholar 

  • Mochii, M., Agata, K., and Eguchi, G., 1991, Complete sequence and expression of a cDNA encoding a chicken 115-kDa melanosomal matrix protein, Pigment Cell Res. 4:41–47.

    PubMed  CAS  Google Scholar 

  • Montagna, W., and Ellis, R.A., 1958, The Biology of Hair Growth, Academic Press, New York, pp.1–358.

    Google Scholar 

  • Montagna, W., and Parakkal, RE, 1974, The Structure and Function of Skin, Academic Press, New York, pp.1–433.

    Google Scholar 

  • Montagna, W., Kligman, A.M., Carlisle, K.S., 1991, Atlas of Normal Human Skin, Springer-Verlag, pp.1–422.

    Google Scholar 

  • Morell, R., Friedman, T.B., Moelijopawiro, S., Hartono, Soewito, and Asher, J.H., Jr., 1992, A frameshift mutation in the HUP2 paired domain of the probable human homolog of murine PAX-3 is responsible for Waardenburg syndrome type I in an Indonesian family, Hum. Mol. Genet. 1:243–247.

    PubMed  CAS  Google Scholar 

  • Morgan, J., 1786, Some accounts of motley colored or pye Negro girl and mulatto boy, Trans. Am. Philos. Soc. (Phila) 2:392–395.

    Google Scholar 

  • Morrison-Graham, K., and Takahashi, Y., 1993, Steel factor and c-kit receptor: from mutants to a growth factor system, BioEssays 15:77–83.

    PubMed  CAS  Google Scholar 

  • Mountjoy, K.G., Robbins, L.S., Mortrud, M.T., and Cone, R.D., 1992, The cloning of a family of genes that encode the melanocortin receptors, Science 257:1248–1251.

    PubMed  CAS  Google Scholar 

  • Murphy, M., Reid, K., Williams, D.E., Lyman, S.D., and Bartlett, P.F., 1992, Steel factor is required for maintenance, but not differentiation, of melanocyte precursors in the neural crest, Devel. Biol. 153:396–401.

    CAS  Google Scholar 

  • Murty, V. V.V.S., Bouchard, B., Mathew, S., Vijayasaradhi, S., and Houghton, A.N., 1992, Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization, Genomics 13:227–229.

    PubMed  CAS  Google Scholar 

  • Nance, W.E., Jackson, C.E., and Witkop, C.J., Jr., 1970, Amish albinism: A distinctive autosomal recessive phenotype, Am. J. Hum. Genet. 22:579–586.

    PubMed  CAS  Google Scholar 

  • Nicholls, R.D., 1993, Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review, Am. J. Med. Genet. 46:16–25.

    PubMed  CAS  Google Scholar 

  • Nishikawa, S., Kusakabe, M., Yoshinaga, K., Ogawa, M., Hayashi, S-I., Kunisada, T., Era, T., Sakakura, T., and Nishikawa, S-I., 1991, In utero manipulation of coat color formation by a monoclonal anti-c-kit antibody: two distinct waves of c-kit dependency during melanocyte development, EMBO J. 10:2111–2118.

    PubMed  CAS  Google Scholar 

  • Oetting, W.S., and King, R.A., 1992, Molecular analysis of type IA (tyrosinase negative) oculocutaneous albinism, Hum. Genet. 90:258–262.

    PubMed  CAS  Google Scholar 

  • Oetting, W.S., King, R.A., 1993, Molecular basis of type I (tyrosinase related) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene, Hum. Mutation 2:1–6.

    CAS  Google Scholar 

  • Oetting, W.S., Handoko, K.Y., Mentink, M.M., Palier, A.S., White, J.G., King, R.A., 1991a, Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism, J. Invest. Dermatol. 97:15–19.

    PubMed  CAS  Google Scholar 

  • Oetting, W.S., Mentink, M.M., Summers, C.G., Lewis, R.A., White, J.G., and King, R.A., 1991b, Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism, Am. J. Hum. Genet. 49:199–206.

    PubMed  CAS  Google Scholar 

  • Oetting, W.S., Fryer, J.P., and King, R.A., 1993a, A dinucleotide deletion (-ΔGA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual, Hum. Molec. Genet. 2:1047–1048.

    PubMed  CAS  Google Scholar 

  • Oetting, W.S., Witkop, C.J., Brown, S.A., Colomer, R., Fryer, J.P., Bloom, K.E., and King, R.A., 1993b, A frequent mutation in the tyrosinase gene associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico, Am. J. Hum. Genet. 52:17–23.

    PubMed  CAS  Google Scholar 

  • Oetting, W.S., Fryer, J.P., Oofuji, Y., Middendorf, L.R., Brumbaugh, J.A., Summers, C.G., King, R.A., 1994, Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons, Electrophoresis 15:159–164.

    PubMed  CAS  Google Scholar 

  • Online Mendelian Inheritance in Man, OMIM (TM) 1994, [database online], The Johns Hopkins University, Baltimore, Maryland.

    Google Scholar 

  • Orlow, S.J., Osber, M.P., and Pawelek, J.M., 1992, Synthesis and characterization of melanins from dihydroxyindole-2-carboxylic acid and dihydroxyindole, Pigment Cell Res. 5:113–121.

    PubMed  CAS  Google Scholar 

  • Orlow, S.J., Zhou, B.K., Boissy, R.E., and Pifko-Hirst, S., 1993, Identification of a mammalian melanosomal matrix glycoprotein, J. Invest. Dermatol. 101:141–144.

    PubMed  CAS  Google Scholar 

  • Pawelek, J.M., 1985, Studies on the Cloudman melanoma cell line as a model for the action of MSH, Yale J. Biol. Med. 58:571–578.

    PubMed  CAS  Google Scholar 

  • Pawelek, J.M., 1991, After DOPAchrome? Pigment Cell Res. 4:53–62.

    PubMed  CAS  Google Scholar 

  • Pawelek, J.M., Chakraborty, A.K., Osber, M.P., Orlow, S.J., Min, K., Rosenzweig, K.E., and Bolognia, J., 1992, Molecular cascades in UV-induced melanogenesis: A central role for melanotropins? Pigment Cell Res. 5:348–356.

    PubMed  CAS  Google Scholar 

  • Pierpont, J.W., and Erickson, R.P., 1993, Facts on PAX, Am. J. Hum. Genet. 52:451–454.

    PubMed  CAS  Google Scholar 

  • Pliny, 1942, The Natural History of Pliny: Plinius Secundus the Elder. Book 7. Rackman H., trans., Harvard University Press, Cambridge.

    Google Scholar 

  • Prota, G., 1986, Pigment cell metabolism: Chemical and enzymatic control, in: Cutaneous Melanoma (U. Veronesi and N. Cascinelli, eds.), Academic Press, New York, pp. 233–241.

    Google Scholar 

  • Prota, G., 1988a, Progress in the chemistry of melanins and related metabolites, Med. Res. Rev. 8:525–556.

    PubMed  CAS  Google Scholar 

  • Prota, G., 1988b, Some new aspects of eumelanin chemistry, Prog. Clin. Biol. Res. 256:101–124.

    PubMed  CAS  Google Scholar 

  • Prota, G., 1992, Melanins and Melanogenesis, Academic Press, New York, pp. 1–290.

    Google Scholar 

  • Ramsay, M., Colman, M-A., Stevens, G., Zwane, E., Kromberg, J., Farrall, M., and Jenkins, T., 1992, The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-ql2, Am. J. Hum. Genet. 51:879–884.

    PubMed  CAS  Google Scholar 

  • Reith, A.D., Rottapel, R., Giddens, E., Brady, C., Forrester, L., and Bernstein, A., 1990, W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor, Genes Dev. 4:390–400.

    PubMed  CAS  Google Scholar 

  • Ramsay, M., Colman, M-A., Stevens, G., Zwane, E., Kromberg, J., Farrall, M., and Jenkins, T., 1992, The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-ql2, Am. J. Hum. Genet. 51:879–884.

    PubMed  CAS  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.C., and Nicholls, R.D., 1993, A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism, Nature 361:72–76.

    PubMed  CAS  Google Scholar 

  • Robbins, L.S., Nadeau, J.H., Johnson, K.R., Kelly, M.A., Roselli-Rehfuss, L., Baack, E., Mountjoy, K.G., and Cone, R.D., 1993, Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function, Cell 72:827–834.

    PubMed  CAS  Google Scholar 

  • Sanders, G., Lichte, B., Meyer, H.E., and Kilimann, M.W., 1992, cDNA encoding the chicken ortholog of the mouse dilute gene product. Sequence comparison reveals a myosin I subfamily with conserved C-terminal domains, FEBS Lett. 311:295–298.

    PubMed  CAS  Google Scholar 

  • Schaefer, L., Ferrero, G.B., Grillo, A., Bassi, M.T., Roth, E.J., Wapenaar, M.C., Van Ommen, G.J.B., Mohandas, T.K., Rocchi, M., Zoghbi, H.Y., and Ballabio, A., 1993, A high resolution deletion map of human chromosome Xp22, Nature Genetics 4:272–279.

    PubMed  CAS  Google Scholar 

  • Schnur, R.E., Nussbaum, R.L., Anson-Cartwright, L., McCowell, C., Worton, R.G., and Musarella, M.A., 1991, Linkage analysis in X-linked ocular albinism, Genomics 9:605–613.

    PubMed  CAS  Google Scholar 

  • Shibahara, S., Tomita, Y., Sakakura, T., Nager, C., Chaudhuri, B., and Muller, R., 1986, Cloning and expression of cDNA encoding mouse tyrosinase, Nucl. Acids Res. 14:2413–2427.

    PubMed  CAS  Google Scholar 

  • Shibata, T., Prota, G., and Mishima, Y., 1993, Non-melanosomal regulatory factors in melanogenesis, J. Invest. Dermatol. 100:274S–280S.

    Google Scholar 

  • Silvers, W.K., 1979, The Coat Colors of Mice. Springer-Verlag, New York.

    Google Scholar 

  • Smith, E.A., Seidin, M.F., Martinez, L., Watson, M.L., Choudhury, G.G., Lalley, P.A., Pierce, J., Aaronson, S., Barker, J., Naylor, S.L., and Sakaguchi, A.Y., 1991, Mouse platelet-derived growth factor receptor a gene is deleted in W 19H and patch mutations on chromosome 5, Proc. Natl. Acad. Sci. USA 88:4811–4815.

    PubMed  CAS  Google Scholar 

  • Spanakis, E., Lamina, P., and Bennett, D.C., 1992, Effects of the developmental colour mutations silver and recessive spotting on proliferation of diploid and immortal mouse melanocytes in culture, Development 114:675–680.

    PubMed  CAS  Google Scholar 

  • Spritz, R.A., 1993a, Molecular basis of piebaldism and Waardenburg syndrome, Current Opinion in Dermatology, 78–84.

    Google Scholar 

  • Spritz, R.A., 1993, Molecular genetics of oculocutaneous albinism, Semin. Dermatol. 12:167–172.

    PubMed  CAS  Google Scholar 

  • Spritz, R.A., 1994a, Molecular genetics of oculocutaneous albinism, Hum. Molec. Genet. 3:1469–1475.

    PubMed  CAS  Google Scholar 

  • Spritz, R.A., 1994b, The molecular basis of human piebaldism, J. Invest. Dermatol., in press.

    Google Scholar 

  • Spritz, R.A., Strunk, K.M., Giebel, L.B., and King, R.A., 1990, Detection of mutations in the tyrosinase gene in a patient with Type IA oculocutaneous albinism, New Eng. J. Med. 322:1724–1728.

    PubMed  CAS  Google Scholar 

  • Spritz, R.A., Strunk, K.M., Hsieh, C.L., Sekhon, G.S., and Francke, U., 1991, Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism, Amer. J. Hum. Gen. 48:318–324.

    CAS  Google Scholar 

  • Spritz, R.A., Droetto, S., and Fukushima, Y., 1992a, Deletion of the KIT and PDGFRA genes in a patient with piebaldism, Amer. J. Med. Gen. 44:492–495.

    CAS  Google Scholar 

  • Spritz, R.A., Giebel, L.B., and Holmes, S.A., 1992b Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism, Amer. J. Hum. Gen. 50:261–269.

    CAS  Google Scholar 

  • Spritz, R.A., Holmes, S.A., Ramesar, R., Greenberg, J., Curtis, D., and Beighton, P., 1992c, Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism, Amer. J. Hum. Gen. 51:1058–1065.

    CAS  Google Scholar 

  • Spritz, R.A., Holmes, S.A., Berg, S.Z., Nordlund, J.J., and Fukai, K., 1993a, A recurrent deletion in the KIT (mast/stem cell growth factor receptor) gene is a frequent cause of human piebaldism, Hum. Molec. Genet. 2:1499–1500.

    PubMed  CAS  Google Scholar 

  • Spritz, R.A., Holmes, S.A., Itin, P., and Küster, W., 1993b, Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism, J. Invest. Dermatol. 101:22–25.

    PubMed  CAS  Google Scholar 

  • Spritz, R.A., Ho, L., and Strunk, K.M., 1994a, Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: Implications for human piebaldism and mouse dominant white spotting (W), J. Invest. Dermatol. 103:148–150.

    PubMed  CAS  Google Scholar 

  • Spritz, R.A., Strunk, K.M., Lee, S-T., Lu-Kuo, J.M., Ward, D.C., LePaslier, D., Altherr, M.R., Dorman, T.E., and Moir, D.T., 1994b, A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12, Genomics 22:431–436.

    PubMed  CAS  Google Scholar 

  • Steel, K.P., Davidson, D.R., and Jackson, I.J., 1992, TRP2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor, Development 115:1111–1119.

    PubMed  CAS  Google Scholar 

  • Stephenson, D.A., Mercola, M., Anderson, E., Wang, C., Stiles, C.D., Bowen-Pope, D.F., and Chapman, V.M., 1991, Platelet-derived growth factor receptor α-subunit gene (Pfgfra) is deleted in the mouse patch (Ph) mutation, Proc. Natl. Acad. Sci. USA 88:6–10.

    PubMed  CAS  Google Scholar 

  • Summers, C.G., Creel, D., Townsend, D., and King, R.A., 1991, Variable expression of vision in sibswith albinism, Am. J. Med. Genet. 40:327–331.

    PubMed  CAS  Google Scholar 

  • Sunohara, N., Sakuragawa, N., Satoyoshi, E., Tanae, A., and Shapiro, L.J., 1986, A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C., Ann. Neurol. 19:174–181.

    PubMed  CAS  Google Scholar 

  • Tachibana, M., Perez-Jurado, L.A., Nakayama, A., Hodgkinson, C.A., Li, X., Schneider, M., Miki, T., Fex, J., Francke, U., and Arnheiter, H., 1994, Cloning of MITF, the human homolog of the mouse microphthalmia gene, and assignment to human chromosome 3, region p14.1–p12.3, Hum. Molec. Genet. 3:553–558.

    PubMed  CAS  Google Scholar 

  • Takeda, A., Tomita, Y., Matsunaga, J., Tagami, H., and Shibahara, S., 1990, Molecular basis of tyrosinase-negative oculocutaneous albinism, J. Biol. Chem. 265:17792–17797.

    PubMed  CAS  Google Scholar 

  • Tan, J.C., Nocka, K., Ray, P., Traktman, P., and Besmer, P., 1990, The dominant W42 spotting phenotype results from a missense mutation in the c-kit receptor kinase, Science 247:209–212.

    PubMed  CAS  Google Scholar 

  • Tassabehji, M., Read, A.P., Newton, V.E., Harris, R., Balling, R., Gruss, P., Strachan, T., 1992, Waardenburg syndrome patients have mutations in the human homolog of the Pax-3 paired box gene, Nature 355:635–636.

    PubMed  CAS  Google Scholar 

  • Tassabehji, M., Read, A.P., Newton, V.E., Patton, M., Gruss, P., Harris, R., Strachan, T., 1993, Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2, Nature Genetics 3:26–30.

    PubMed  CAS  Google Scholar 

  • Theriault, L.L., Hurley, L.S., 1970, Ultrastructure of developing melanosomes in C57 black and pallid mice, Devel. Biol. 23:261–275.

    CAS  Google Scholar 

  • Tomita, Y., Takeda, A., Okinaga, S., Tagami, H., Shibahara, S., 1989, Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene, Biochem. Biophys. Res. Commun. 164:990–996.

    PubMed  CAS  Google Scholar 

  • Tripathi, R.K., Giebel, L.B., Strunk, K. M., Spritz, R.A., 1991, A polymorphism of the human tyrosinase gene that is associated with temperature-sensitive enzymatic activity, Gene Expression 1:103–110.

    PubMed  CAS  Google Scholar 

  • Tripathi, R.K., Hearing, V.J., Urabe, K., Aroca, P., Spritz, R.A., 1992a, Mutational mapping of the catalytic activities of human tyrosinase, J. Biol. Chem. 267:23707–23712.

    PubMed  CAS  Google Scholar 

  • Tripathi, R.K., Strunk, K.M., Giebel, L.B., Weleber, R.G., Spritz, R.A., 1992b, Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions, Amer. J. Med. Gen. 43:865–871.

    CAS  Google Scholar 

  • Tripathi, R.K., Bundey, S., Musarella, M.A., Droetto, S., Strunk, K.M., Holmes, S., Spritz, R.A., 1993, Mutations of the tyrosinase gene in Indo-Pakistani Patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA), Am. J. Hum. Genet. 53:1173–1179.

    PubMed  CAS  Google Scholar 

  • Tsukamoto, K., Jackson, I.J., Urabe, K., Montague, P.M., Hearing, V.J., 1992a, A second tyrosinase-related protein, TRP2, is a melanogenic enzyme termed DOPAchrome tautomerase, EMBO J. 11:519–526.

    PubMed  CAS  Google Scholar 

  • Tsukamoto, K., Tohma, T., Ohta, T., Yamakawa, K., Fukushima, Y., Nakamura, Y., Niikawa, N., 1992b, Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I, Hum. Molec. Genet. 1:315–317.

    PubMed  CAS  Google Scholar 

  • Urabe, K., Aroca, P., Hearing, V.J., 1993, From gene to protein: Determination of melanin synthesis, Pigment Cell Res. 6:186–192.

    PubMed  CAS  Google Scholar 

  • Vandenbark, G.R., DeCastro, C.M., Taylor, H., Dew-Knight, S., Kaurman, R.E., 1992, Cloning and structural analysis of the human c-kit gene. Oncogene 7:1259–1266.

    PubMed  CAS  Google Scholar 

  • Vijayasaradhi, S., Bouchard, B., Houghton, A.N., 1990, The melanoma antigen gp75 is the human homolog of the mouse b (brown) locus gene product, J. Exp. Med. 171:1375–1380.

    PubMed  CAS  Google Scholar 

  • Vogan, K.J., Epstein, D.J., Trasler, D.G., Gros, P., 1993, The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene, Genomics 17:364–369.

    PubMed  CAS  Google Scholar 

  • Vrieling, H., Duhl, D.M.J., Millar, S.E., Miller, K.A., Barsh, G.S., 1994, Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene, Proc. Natl. Acad. Sci. USA 91:5667–5671.

    PubMed  CAS  Google Scholar 

  • Vulpe, C., Levinson, B., Whitney, S., Packman, S., Gitschier, J., 1993, Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase, Nature Genetics 3:7–13.

    PubMed  CAS  Google Scholar 

  • Waardenburg, P.J., 1951, A new syndrome combining developmental anomalies of the eyelids, eye-brows and nose root with pigmentary defects of the iris and head hair with congenital deafness, Am. J. Hum. Genet. 3:195–253.

    PubMed  CAS  Google Scholar 

  • Wagstaff, J., 1993, A translocation-associated deletion defines a critical region for the 9p-syndrome, Am. J. Hum. Genet. 53, (Suppl.), 619.

    Google Scholar 

  • Wapenaar, M.C., Bassi, M.T., Schaefer, L., Grillo, A., Ferrero, G.B., Chinault, A.C., Ballabio, A., and Zoghbi, H. Y., 1993, The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of the critical regions, Hum. Molec. Genet. 2:947–957.

    PubMed  CAS  Google Scholar 

  • White, R.A., Peters, L.L., Adkison, L.R., Korsgren, C., Cohen, C.M., and Lux, S.E., 1992, The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene, Nature Genetics 2:80–83.

    PubMed  CAS  Google Scholar 

  • Winder, A.J., Kobayashi, T., Tsukamoto, K., Urabe, K., Aroca, P., Kameyama, K., Hearing, V.J., 1994, The tyrosinase gene family: Interactions of melanogenic proteins to regulate melanogenesis, Biochem. J., in press.

    Google Scholar 

  • Winship, I.M., Babaya, M., Ramesar, R.S., 1993, X-linked ocular albinism and sensorineural deafness: Linkage to Xp23.3, Genomics 18:444–445.

    PubMed  CAS  Google Scholar 

  • Witkop, C.J., Jr., Quevedo, W.C., Jr., Fitzpatrick, T.B., and King, R.A., 1989, Albinism, in: The Metabolic Basis of Inherited Disease (C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, eds.), McGraw-Hill, New York, pp. 2905–2947.

    Google Scholar 

  • Wittbjer, A., Dahlback, B., Odh, G., Rosengren, A-M., Rosengren, E., and Rorsman, H., 1989, Isolation of human tyrosinase from cultured melanoma cells, Acta. Derm. Venereol (Stokh.) 69:125–131.

    CAS  Google Scholar 

  • Yamamoto, Y., Nishimoto, H., and Ikemoto, S., 1989, Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: Probable reduced gene dosage effect and partial piebald trait, Am. J. Med. Genet. 32:520–523.

    PubMed  CAS  Google Scholar 

  • Yarden, Y., Kuang, W-J., Yang-Feng, T., Coussens, L., Munemitsu, S., Dull, T.J., Chen, E., Schlessinger, J., Francke, U., Ullrich, A., 1987, Human proto-oncogene c-kit: A new cell surface receptor tyrosine kinase for an unidentified ligand, EMBO J. 6:3341–3351.

    PubMed  CAS  Google Scholar 

  • Yen, T.T., Gill, A.M., Frigeri, L.G., Barsh, G.S., and Wolff, G.L., 1994, Obesity, diabetes, and neoplasia in yellow A vy/- mice: Ectopic expression of the agouti gene, FASEB J. 8:479–488.

    PubMed  CAS  Google Scholar 

  • Yokoyama, K., Suzuki, H., Yasumoto, K., Tomita, Y., and Shibahara, S., 1994, Molecular cloning and functional analysis of a cDNA coding for human DOPAchrome tautomerase/tyrosinase-related protein-2, Biochim. Biophys. Acta. 121:317–321.

    Google Scholar 

  • Zsebo, K.M., Williams, D.A., Geissler, E.N., Broudy, V.C., Martin, F.H., Atkins, H.L., Hsu, R.Y., Birkett, N.C., Okino, K.H., Murdock, D.C., Jacobsen, F.W., Langley, K.E., Smith, K.A., Takeishi, T., Cattanach, B.M., Galli, S. J., and Suggs, S.V., 1990, Stem cell factor is encoded at the S1 locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor, Cell 63:213–224.

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Departments of Medical Genetics and Pediatrics, University of Wisconsin, Madison, WI, 53706, USA

    Richard A. Spritz

  2. Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA

    Vincent J. Hearing Jr.

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  1. Richard A. Spritz
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Editors and Affiliations

  1. Late of University of Pennsylvania, Philadelphia, USA

    Harry Harris (Former Harnwell Professor of Human Genetics) (Former Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University, New Yok, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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© 1994 Springer Science+Business Media New York

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Spritz, R.A., Hearing, V.J. (1994). Genetic Disorders of Pigmentation. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 22. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-9062-7_1

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  • DOI: https://doi.org/10.1007/978-1-4757-9062-7_1

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