Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Abbott, C., Jackson, I. J., Carritt, B., Povey, S.The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4. Genomics 11: 471-473, 1991. [PubMed: 1769662] [Full Text: https://doi.org/10.1016/0888-7543(91)90160-g\]
  2. 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., Nordlund, J. J.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. 58: 1145-1156, 1996. [PubMed: 8651291]
  3. Box, N. F., Wyeth, J. R., Mayne, C. J., O'Gorman, L. E., Martin, N. G., Sturm, R. A.Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. Mammalian Genome 9: 50-53, 1998. [PubMed: 9434945] [Full Text: https://doi.org/10.1007/s003359900678\]
  4. Chiang, P.-W., Fulton, A. B., Spector, E., Hisama, F. M.Synergistic interaction of the OCA2 and OCA3 genes in a family. (Letter) Am. J. Med. Genet. 146A: 2427-2430, 2008. [PubMed: 18680187] [Full Text: https://doi.org/10.1002/ajmg.a.32453\]
  5. Chiang, P.-W., Spector, E., Scheuerle, A.A case of Asian Indian OCA3 patient. (Letter) Am. J. Med. Genet. 149A: 1578-1580, 2009. [PubMed: 19533799] [Full Text: https://doi.org/10.1002/ajmg.a.32930\]
  6. Chintamaneni, C. D., Ramsay, M., Colman, M.-A., Fox, M. F., Pickard, R. T., Kwon, B. S.Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter. Biochem. Biophys. Res. Commun. 178: 227-235, 1991. [PubMed: 1906272] [Full Text: https://doi.org/10.1016/0006-291x(91)91803-k\]
  7. Cohen, T., Muller, R. M., Tomita, Y., Shibahara, S.Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. Nucleic Acids Res. 18: 2807-2808, 1990. [PubMed: 2111010] [Full Text: https://doi.org/10.1093/nar/18.9.2807\]
  8. Forshew, T., Khaliq, S., Tee, L., Smith, U., Johnson, C. A., Mehdi, S. Q., Maher, E. R.Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (Letter) Clin. Genet. 68: 182-184, 2005. [PubMed: 15996218] [Full Text: https://doi.org/10.1111/j.1399-0004.2005.00460.x\]
  9. Fountain, J. W., Karayiorgou, M., Ernstoff, M. S., Kirkwood, J. M., Vlock, D. R., Titus-Ernstoff, L., Bouchard, B., Vijayasaradhi, S., Houghton, A. N., Lahti, J., Kidd, V. J., Housman, D. E., Dracopoli, N. C.Homozygous deletions within human chromosome band 9p21 in melanoma. Proc. Nat. Acad. Sci. 89: 10557-10561, 1992. [PubMed: 1438246] [Full Text: https://doi.org/10.1073/pnas.89.21.10557\]
  10. Halaban, R., Moellmann, G.Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Proc. Nat. Acad. Sci. 87: 4809-4813, 1990. [PubMed: 1693779] [Full Text: https://doi.org/10.1073/pnas.87.12.4809\]
  11. Jackson, I. J.A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. Proc. Nat. Acad. Sci. 85: 4392-4396, 1988. Note: Erratum: Proc. Nat. Acad. Sci. 86: 997 only, 1989. [PubMed: 3132713] [Full Text: https://doi.org/10.1073/pnas.85.12.4392\]
  12. Johnson, R., Jackson, I. J.Light is a dominant mouse mutation resulting in premature cell death. Nature Genet. 1: 226-229, 1992. [PubMed: 1303241] [Full Text: https://doi.org/10.1038/ng0692-226\]
  13. Kenny, E. E., Timpson, N. J., Sikora, M., Yee, M.-C., Moreno-Estrada, A., Eng, C., Huntsman, S., Gonzalez Burchard, E., Stoneking, M., Bustamante, C. D., Myles, S.Melanesian blond hair is caused by an amino acid change in TYRP1. Science 336: 554 only, 2012. [PubMed: 22556244] [Full Text: https://doi.org/10.1126/science.1217849\]
  14. King, R. A.Personal Communication. Minneapolis, Minn. 12/31/1992.
  15. Kwon, B. S., Halaban, R., Chintamaneni, C.Molecular basis of mouse Himalayan mutation. Biochem. Biophys. Res. Commun. 161: 252-260, 1989. [PubMed: 2567165] [Full Text: https://doi.org/10.1016/0006-291x(89)91588-x\]
  16. Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., Ramsay, M.Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene. Am. J. Hum. Genet. 61: 1095-1101, 1997. [PubMed: 9345097] [Full Text: https://doi.org/10.1086/301603\]
  17. Muller, G., Ruppert, S., Schmid, E., Schutz, G.Functional analysis of alternatively spliced tyrosinase gene transcripts. EMBO J. 7: 2723-2730, 1988. [PubMed: 3141148] [Full Text: https://doi.org/10.1002/j.1460-2075.1988.tb03126.x\]
  18. Murty, V. V. V. S., 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 13: 227-229, 1992. [PubMed: 1577487] [Full Text: https://doi.org/10.1016/0888-7543(92)90228-k\]
  19. Ramsay, M., Colman, M. A., Jenkins, T., Fox, M., Chintamaneni, C., Pickard, R., Kwon, B.The human CAS2 locus (homologous to the mouse b locus) maps to 9p22-pter. (Abstract) Cytogenet. Cell Genet. 58: 1943 only, 1991.
  20. Rooryck, C., Roudaut, C., Robine, E., Musebeck, J., Arveiler, B.Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Res. 19: 239-242, 2006. [PubMed: 16704458] [Full Text: https://doi.org/10.1111/j.1600-0749.2006.00298.x\]
  21. Schmidt-Kuntzel, A., Eizirik, E., O'Brien, S. J., Menotti-Raymond, M.Tyrosinase and tyrosinase related protein I alleles specify domestic cat coat color phenotypes of the albino and brown loci. J. Hered. 96: 289-301, 2005. [PubMed: 15858157] [Full Text: https://doi.org/10.1093/jhered/esi066\]
  22. Shibahara, S., Tomita, Y., Yoshizawa, M., Shibata, K., Tagami, H.Identification of mutation in the pigment cell-specific gene located at the brown locus in mouse. Pigment Cell Res. Suppl. 2: 90-95, 1992. [PubMed: 1409444] [Full Text: https://doi.org/10.1111/j.1600-0749.1990.tb00355.x\]
  23. Sturm, R. A., O'Sullivan B. J., Box, N. F., Smith, A. G., Smit, S. E., Puttick, E. R. J., Parsons, P. G., Dunn, I. S.Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29: 24-34, 1995. [PubMed: 8530077] [Full Text: https://doi.org/10.1006/geno.1995.1211\]