Information de reference pour ce titreAccession Number: | 01329158-201407000-00008.
|
Author: | Jagirdar, Kasturee 1,*; Smit, Darren J. 1,*; Ainger, Stephen A. 1; Lee, Katie J. 1; Brown, Darren L. 1; Chapman, Brett 2; Zhao, Zhen Zhen 2; Montgomery, Grant W. 2; Martin, Nicholas G. 2; Stow, Jennifer L. 1; Duffy, David L. 2; Sturm, Richard A. 1
|
Institution: | (1) Institute for Molecular Bioscience, University of Queensland, Brisbane, Qld, Australia (2) QIMR Berghofer Medical Research Institute, Brisbane, Qld, Australia
|
Title: | |
Source: | Pigment Cell & Melanoma Research. 27(4):552-564, July 2014.
|
Abstract: | Summary: We have compared the melanogenic activities of cultured melanocytes carrying two common TYR alleles as homozygous 192S-402R wild-type, heterozygous and homozygous variant. This includes assays of TYR protein, DOPAoxidase activity, glycosylation and temperature sensitivity of protein and DOPAoxidase levels. Homozygous wild-type strains on average had higher levels of TYR protein and enzyme activity than other genotypes. Homozygous 402Q/Q melanocytes produced significantly less TYR protein, displayed altered trafficking and glycosylation, with reduced DOPAoxidase. However, near wild-type TYR activity levels could be recovered at lower growth temperature. In a sample population from Southeast Queensland, these two polymorphisms were present on four TYR haplotypes, designated as WT 192S-402R, 192Y-402R and 192S-402Q with a double-variant 192Y-402Q of low frequency at 1.9%. Based on cell culture findings and haplotype associations, we have used an additive model to assess the penetrance of the ten possible TYR genotypes derived from the combination of these haplotypes.
(C) 2014 John Wiley & Sons, Ltd
|
Author Keywords: | tyrosinase; pigmentation; melanocyte; albinism; melanin.
|
References: | Altshuler, D.M., Gibbs, R.A., Peltonen, L.. et al. (2010). Integrating common and rare genetic variation in diverse human populations. Nature, 467, 52-58.
Beaumont, K.A., Shekar, S.N., Cook, A.L., Duffy, D.L., and Sturm, R.A.. (2008). Red hair is the null phenotype of MC1R. Hum. Mutat. 29, E88-E94.
Beaumont, K.A., Hamilton, N.A., Moores, M.T.. et al. (2011). The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome trafficking. Traffic, 12, 627-643.
Berson, J.F., Frank, D.W., Calvo, P.A., Bieler, B.M., and Marks, M.S.. (2000). A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. J. Biol. Chem. 275, 12281-12289.
Bouchard, B., Fuller, B.B., Vijayasaradhi, S., and Houghton, A.N.. (1989). Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA. J. Exp. Med. 169, 2029-2042.
Branicki, W., Liu, F., Van Duijn, K., Draus-Barini, J., Pospiech, E., Walsh, S., Kupiec, T., Wojas-Pelc, A., and Kayser, M.. (2011). Model-based prediction of human hair color using DNA variants. Hum. Genet. 129, 443-454.
Candille, S.I., Absher, D.M., Beleza, S.. et al. (2012). Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. PLoS ONE, 7, e48294.
Chaki, M., Sengupta, M., Mondal, M., Bhattacharya, A., Mallick, S., Bhadra, R., and Ray, K.. (2011). Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. J. Invest. Dermatol. 131, 260-262.
Chiang, P.W., Drautz, J.M., Tsai, A.C., Spector, E., and Clericuzio, C.L.. (2008). A new hypothesis of OCA1B. Am. J. Med. Genet. A, 146A, 2968-2970.
Cook, A.L., Donatien, P.D., Smith, A.G., Murphy, M., Jones, M.K., Herlyn, M., Bennett, D.C., Leonard, J.H., and Sturm, R.A.. (2003). Human melanoblasts in culture: expression of BRN2 and synergistic regulation by fibroblast growth factor-2, stem cell factor, and endothelin-3. J. Invest. Dermatol. 121, 1150-1159.
Cook, A.L., Smith, A.G., Smit, D.J., Leonard, J.H., and Sturm, R.A.. (2005). Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Exp. Cell Res. 308, 222-235.
Cook, A.L., Chen, W., Thurber, A.E.. et al. (2009). Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. J. Invest. Dermatol. 129, 392-405.
Duffy, D.L., Box, N.F., Chen, W., Palmer, J.S., Montgomery, G.W., James, M.R., Hayward, N.K., Martin, N.G., and Sturm, R.A.. (2004). Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum. Mol. Genet. 13, 447-461.
Duffy, D.L., Zhao, Z.Z., Sturm, R.A., Hayward, N.K., Martin, N.G., and Montgomery, G.W.. (2010). Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J. Invest. Dermatol. 130, 520-528.
Ellgaard, L., Molinari, M., and Helenius, A.. (1999). Setting the standards: quality control in the secretory pathway. Science, 286, 1882-1888.
Florell, S.R., Meyer, L.J., Boucher, K.M.. et al. (2005). Nevus distribution in a Utah melanoma kindred with a temperature-sensitive CDKN2A mutation. J. Invest. Dermatol. 125, 1310-1312.
Fukai, K., Holmes, S.A., Lucchese, N.J., Siu, V.M., Weleber, R.G., Schnur, R.E., and Spritz, R.A.. (1995). Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat. Genet. 9, 92-95.
Fuller, B.B., Spaulding, D.T., and Smith, D.R.. (2001). Regulation of the catalytic activity of preexisting tyrosinase in black and Caucasian human melanocyte cell cultures. Exp. Cell Res. 262, 197-208.
Giebel, L.B., and Spritz, R.A.. (1990). RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res. 18, 3103.
Giebel, L.B., Strunk, K.M., and Spritz, R.A.. (1991). Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics, 9, 435-445.
Gudbjartsson, D.F., Sulem, P., Stacey, S.N.. et al. (2008). ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat. Genet. 40, 886-891.
Halaban, R., Cheng, E., Zhang, Y., Moellmann, G., Hanlon, D., Michalak, M., Setaluri, V., and Hebert, D.N.. (1997). Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells. Proc. Natl Acad. Sci. USA, 94, 6210-6215.
Halaban, R., Svedine, S., Cheng, E., Smicun, Y., Aron, R., and Hebert, D.N.. (2000). Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proc. Natl Acad. Sci. USA, 97, 5889-5894.
Hu, H.H., Guedj, M., Descamps, V.. et al. (2011). Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects. J. Dermatol. Sci. 64, 127-133.
Hudjashov, G., Villems, R., and Kivisild, T.. (2013). Global patterns of diversity and selection in human tyrosinase gene. PLoS ONE, 8, e74307.
Hutton, S.M., and Spritz, R.A.. (2008). A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest. Ophthalmol. Vis. Sci. 49, 868-872.
Iozumi, K., Hoganson, G.E., Pennella, R., Everett, M.A., and Fuller, B.B.. (1993). Role of tyrosinase as the determinant of pigmentation in cultured human melanocytes. J. Invest. Dermatol. 100, 806-811.
Jin, Y., Ferrara, T., Gowan, K., Holcomb, C., Rastrou, M., Erlich, H.A., Fain, P.R., and Spritz, R.A.. (2012). Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation. J. Invest. Dermatol. 132, 1730-1733.
Johanson, H.C., Hyland, V., Wicking, C., and Sturm, R.A.. (2009). DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method. Biotechniques, 46, 309-311.
K, B., Purohit, R.. (2013). Mutational analysis of TYR gene and its structural consequences in OCA1A. Gene, 513, 184-195.
King, R.A., Townsend, D., Oetting, W., Summers, C.G., Olds, D.P., White, J.G., and Spritz, R.A.. (1991). Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J. Clin. Invest. 87, 1046-1053.
King, R.A., Pietsch, J., Fryer, J.P., Savage, S., Brott, M.J., Russell-Eggitt, I., Summers, C.G., and Oetting, W.S.. (2003). Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum. Genet. 113, 502-513.
Lange, K., Cantor, R., Horvath, S., Perola, M., Sabatelli, C., Sinsheimer, J., and Sobel, E.. (2001). MENDEL version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am. J. Hum. Genet. 69, 504.
Lange, K., Sinsheimer, J.S., and Sobel, E.. (2005). Association testing with Mendel. Genet. Epidemiol. 29, 36-50.
Leonard, J.H., Marks, L.H., Chen, W., Cook, A.L., Boyle, G.M., Smit, D.J., Brown, D.L., Stow, J.L., Parsons, P.G., and Sturm, R.A.. (2003). Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: pigmentation marker, ultrastructural and UV-survival studies. Pigment Cell Res. 16, 198-207.
Miyamura, Y., Verma, I.C., Saxena, R., Murase, A., Kono, M., Suzuki, T., Yasue, S., Shibata, S., Sakakibara, A., and Tomita, Y.. (2005). Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations. J. Dermatol. Sci. 39, 167-173.
Nan, H., Kraft, P., Hunter, D.J., and Han, J.. (2009). Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int. J. Cancer, 125, 909-917.
Newton, R.A., Cook, A.L., Roberts, D.W., Leonard, J.H., and Sturm, R.A.. (2007). Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytes. J. Invest. Dermatol. 127, 2216-2227.
Norton, H.L., Kittles, R.A., Parra, E., Mckeigue, P., Mao, X., Cheng, K., Canfield, V.A., Bradley, D.G., Mcevoy, B., and Shriver, M.D.. (2007). Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Mol. Biol. Evol. 24, 710-722.
Oetting, W.S., Pietsch, J., Brott, M.J., Savage, S., Fryer, J.P., Summers, C.G., and King, R.A.. (2009). The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am. J. Med. Genet. A, 149A, 466-469.
Pal, D.S., and Pal, S.. (1990). Prediction of temperature profiles in the human skin and subcutaneous tissues. J. Math. Biol. 28, 355-364.
Pellegrini, C., Zulian, A., Gualandi, F.. et al. (2013). Melanocytes-a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J. Cell. Physiol. 228, 1323-1331.
Ponnazhagan, S., Hou, L., and Kwon, B.S.. (1994). Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region. J. Invest. Dermatol. 102, 744-748.
Roberts, D.W., Newton, R.A., Beaumont, K.A., Helen Leonard, J., and Sturm, R.A.. (2006). Quantitative analysis of MC1R gene expression in human skin cell cultures. Pigment Cell Res. 19, 76-89.
Rooryck, C., Morice-Picard, F., Elcioglu, N.H., Lacombe, D., Taieb, A., and Arveiler, B.. (2008). Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res. 21, 583-587.
Rooryck, C., Morice, F., Didier, L., Taieb, A., and Arveiler, B.. (2009). Genetic basis of oculocutaneous albinism. Expert Rev. Dermatol. 4, 611-622.
Shriver, M.D., Parra, E.J., Dios, S.. et al. (2003). Skin pigmentation, biogeographical ancestry and admixture mapping. Hum. Genet. 112, 387-399.
Simeonov, D.R., Wang, X., Wang, C.. et al. (2013). DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum. Mutat. 34, 827-835.
Spritz, R.A., Ho, L., Furumura, M., and Hearing, V.J. Jr. (1997). Mutational analysis of copper binding by human tyrosinase. J. Invest. Dermatol. 109, 207-212.
Stokowski, R.P., Pant, P.V., Dadd, T.. et al. (2007). A genomewide association study of skin pigmentation in a South Asian population. Am. J. Hum. Genet. 81, 1119-1132.
Sturm, R.A.. (2009). Molecular genetics of human pigmentation diversity. Hum. Mol. Genet. 18, R9-R17.
Sturm, R.A., and Duffy, D.L.. (2012). Human pigmentation genes under environmental selection. Genome Biol. 13, 248.
Sturm, R.A., and Larsson, M.. (2009). Genetics of human iris colour and patterns. Pigment Cell Melanoma Res. 22, 544-562.
Sturm, R.A., Duffy, D.L., Zhao, Z.Z., Leite, F.P., Stark, M.S., Hayward, N.K., Martin, N.G., and Montgomery, G.W.. (2008). A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am. J. Hum. Genet. 82, 424-431.
Sulem, P., Gudbjartsson, D.F., Stacey, S.N.. et al. (2007). Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 39, 1443-1452.
Tripathi, R.K., Giebel, L.B., Strunk, K.M., and Spritz, R.A.. (1991). A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expr. 1, 103-110.
Tripathi, R.K., Hearing, V.J., Urabe, K., Aroca, P., and Spritz, R.A.. (1992). Mutational mapping of the catalytic activities of human tyrosinase. J. Biol. Chem. 267, 23707-23712.
Wakamatsu, K., Kavanagh, R., Kadekaro, A.L., Terzieva, S., Sturm, R.A., Leachman, S., Abdel-Malek, Z., and Ito, S.. (2006). Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melanin. Pigment Cell Res. 19, 154-162.
Wang, N., and Hebert, D.N.. (2006). Tyrosinase maturation through the mammalian secretory pathway: bringing color to life. Pigment Cell Res. 19, 3-18.
Zhang, J.X., Braakman, I., Matlack, K.E., and Helenius, A.. (1997). Quality control in the secretory pathway: the role of calreticulin, calnexin and BiP in the retention of glycoproteins with C-terminal truncations. Mol. Biol. Cell, 8, 1943-1954.
|
Language: | English.
|
Document Type: | ORIGINAL ARTICLES.
|
Journal Subset: | Clinical Medicine.
|
ISSN: | 1755-1471
|
NLM Journal Code: | 101318927
|
DOI Number: | https://dx.doi.org/10.1111/pcmr....- ouverture dans une nouvelle fenêtre
|
Annotation(s) | |
|
|