Human pigmentation genes: identification, structure and consequences of polymorphic variation.
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N F Box | R. Teasdale | R. Sturm | R A Sturm | N. Box | R D Teasdale
[1] V. del Marmol,et al. Tyrosinase and related proteins in mammalian pigmentation , 1996, FEBS letters.
[2] I. Jackson,et al. Homologous pigmentation mutations in human, mouse and other model organisms. , 1997, Human molecular genetics.
[3] P. Parsons,et al. Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. , 1995, Genomics.
[4] A. Smit. Interspersed repeats and other mementos of transposable elements in mammalian genomes. , 1999, Current opinion in genetics & development.
[5] I. Jackson,et al. Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair , 2000, The Lancet.
[6] V. Hearing,et al. Involvement of ITF2 in the Transcriptional Regulation of Melanogenic Genes* , 2001, The Journal of Biological Chemistry.
[7] S. Orlow,et al. The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: in support of a unifying hypothesis. , 1995, Pigment cell research.
[8] P. Frändberg,et al. Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. , 1998, Biochemical and biophysical research communications.
[9] D. Duffy,et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. , 2001, American journal of human genetics.
[10] R. Sturm,et al. Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNA. , 1994, Gene.
[11] E. Sharlow,et al. The protease-activated receptor 2 regulates pigmentation via keratinocyte-melanocyte interactions. , 2000, Experimental cell research.
[12] M. Brilliant,et al. A new allelic series for the underwhite gene on mouse chromosome 15. , 1998, The Journal of heredity.
[13] B. Kwon,et al. Characterization and subcellular localization of human Pmel 17/silver, a 110-kDa (pre)melanosomal membrane protein associated with 5,6,-dihydroxyindole-2-carboxylic acid (DHICA) converting activity. , 1996, The Journal of investigative dermatology.
[14] J. Wikberg,et al. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. , 1999, Biochemical and biophysical research communications.
[15] K. Wakamatsu,et al. Cysteine transport in melanosomes from murine melanocytes. , 1999, Pigment cell research.
[16] D. Duffy,et al. Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? , 2000, American journal of human genetics.
[17] Q. Wei,et al. Visualization of Melanosome Dynamics within Wild-Type and Dilute Melanocytes Suggests a Paradigm for Myosin V Function In Vivo , 1998, The Journal of cell biology.
[18] A. Robins. Biological Perspectives on Human Pigmentation , 1991 .
[19] D. Bennett,et al. Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes. , 1998, Experimental cell research.
[20] F. Solano,et al. New insights on the structure of the mouse silver locus and on the function of the silver protein. , 2000, Pigment cell research.
[21] M. A. Everett,et al. Role of tyrosinase as the determinant of pigmentation in cultured human melanocytes. , 1993, The Journal of investigative dermatology.
[22] M. Hoogduijn,et al. Melanosomal pH, pink locus protein and their roles in melanogenesis. , 2001, The Journal of investigative dermatology.
[23] D. Mccormick. Sequence the Human Genome , 1986, Bio/Technology.
[24] A. Shimada,et al. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka , 2001, Nature Genetics.
[25] G. Barsh,et al. The mouse ocular albinism 1 gene product is an endolysosomal protein. , 2001, Experimental eye research.
[26] A. Ballabio,et al. Ocular albinism: evidence for a defect in an intracellular signal transduction system , 1999, Nature Genetics.
[27] T. Gojobori,et al. Structure and developmental expression of the ascidian TRP gene: Insights into the evolution of pigment cell–specific gene expression , 1999, Developmental dynamics : an official publication of the American Association of Anatomists.
[28] N. Copeland,et al. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[29] G. Barsh,et al. The melanocortin-1 receptor is a key regulator of human cutaneous pigmentation. , 2000, Pigment cell research.
[30] E. Zackai,et al. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). , 1994, Human molecular genetics.
[31] I. Jackson,et al. Melanocortin 1 receptor variants in an Irish population. , 1998, The Journal of investigative dermatology.
[32] W. Silvers,et al. The underwhite (uw) locus acts autonomously and reduces the production of melanin. , 2000, The Journal of investigative dermatology.
[33] B. Kwon,et al. Polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein. , 1996, European journal of biochemistry.
[34] D. Bernstein,et al. Delayed Onset of Inflammation in Protease-Activated Receptor-2-Deficient Mice1 , 2000, The Journal of Immunology.
[35] G. Prota,et al. Melanins and melanogenesis , 1992 .
[36] I. Jackson,et al. Evidence for variable selective pressures at MC1R. , 2000, American journal of human genetics.
[37] J. V. Moran,et al. Initial sequencing and analysis of the human genome. , 2001, Nature.
[38] A. Ballabio,et al. Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. , 2000, Human molecular genetics.
[39] I. Jackson,et al. Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles. , 1995, Genomics.
[40] M. Ramsay,et al. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. , 2001, American journal of human genetics.
[41] G. Imokawa,et al. Modulation of melanogenic protein expression during the switch from eu- to pheomelanogenesis. , 1995, Journal of cell science.
[42] J. Nordlund. The pigmentary system : physiology and pathophysiology , 1998 .
[43] N. Martin,et al. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. , 1997, Human molecular genetics.
[44] F. Solano,et al. Molecular interactions within the melanogenic complex: formation of heterodimers of tyrosinase and TRP1 from B16 mouse melanoma. , 1998, Biochemical and biophysical research communications.
[45] I. Jackson,et al. Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. , 2000, Human molecular genetics.
[46] M. King,et al. Genomic views of human history. , 1999, Science.
[47] B. Fuller,et al. Regulation of the catalytic activity of preexisting tyrosinase in black and Caucasian human melanocyte cell cultures. , 2001, Experimental cell research.
[48] R. Buscà,et al. Rab27a: A key to melanosome transport in human melanocytes. , 2001, The Journal of cell biology.
[49] R. Spritz,et al. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. , 1991, Genomics.
[50] N. Jablonski,et al. The evolution of human skin coloration. , 2000, Journal of human evolution.
[51] R. Westendorp,et al. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. , 2001, American journal of human genetics.
[52] A. Grüters,et al. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans , 1998, Nature Genetics.
[53] Ian Jackson,et al. Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans , 1995, Nature Genetics.
[54] R. Buscà,et al. Cyclic AMP a key messenger in the regulation of skin pigmentation. , 2000, Pigment cell research.
[55] M. Brilliant,et al. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. , 2000, The Journal of investigative dermatology.
[56] M. Brilliant,et al. Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. , 1995, Pigment cell research.
[57] L. Collinson,et al. Rab27a Regulates the Peripheral Distribution of Melanosomes in Melanocytes , 2001, The Journal of cell biology.
[58] G. Barsh,et al. The genetics of pigmentation: from fancy genes to complex traits. , 1996, Trends in genetics : TIG.
[59] N. Ajubi,et al. nmb, a novel gene, is expressed in low‐metastatic human melanoma cell lines and xenografts , 1995, International journal of cancer.
[60] N. Copeland,et al. Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle. , 2001, Journal of cell science.
[61] T. Yamashita,et al. Intracellular vesicular trafficking of tyrosinase gene family protein in eu- and pheomelanosome biogenesis. , 2000, Pigment cell research.
[62] D. Hewett‐Emmett,et al. High polymorphism at the human melanocortin 1 receptor locus. , 1999, Genetics.
[63] K. Wakamatsu,et al. Melanosomal pH controls rate of melanogenesis, eumelanin/phaeomelanin ratio and melanosome maturation in melanocytes and melanoma cells. , 2001, Experimental cell research.
[64] B. Weber,et al. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population , 1999, Human Genetics.
[65] A. van Daal,et al. A polymorphism study of the human Agouti gene and its association with MC1R. , 2001, Pigment cell research.
[66] G. Imokawa,et al. Tyrosinase Stabilization by Tyrp1 (the brown Locus Protein)* , 1998, The Journal of Biological Chemistry.
[67] L. Yaswen,et al. Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin , 1999, Nature Medicine.
[68] G. Barsh,et al. Characterization of genes modulated during pheomelanogenesis using differential display. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[69] B. Kwon,et al. Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region. , 1994, The Journal of investigative dermatology.
[70] G. Barsh,et al. Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin. , 1997, The Journal of investigative dermatology.
[71] R. Sturm,et al. Human pigmentation genetics: the difference is only skin deep , 1998, BioEssays : news and reviews in molecular, cellular and developmental biology.
[72] M. Brilliant,et al. Melanosomal pH, pink locus protein and their roles in melanogenesis. , 2001, The Journal of investigative dermatology.
[73] H. Heng,et al. Genomic organization and FISH mapping of human Pmel 17, the putative silver locus. , 1996, Pigment cell research.
[74] E. Sharlow,et al. Inhibition of melanosome transfer results in skin lightening. , 2000, The Journal of investigative dermatology.
[75] R. Spritz,et al. Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. , 1996, The Journal of investigative dermatology.
[76] D. Duffy,et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. , 2001, The Journal of investigative dermatology.
[77] M. Hollenberg,et al. A Polymorphic Protease-activated Receptor 2 (PAR2) Displaying Reduced Sensitivity to Trypsin and Differential Responses to PAR Agonists* , 2000, The Journal of Biological Chemistry.
[78] J. Bolognia,et al. The melanocortin-1 receptor: red hair and beyond. , 2001, Archives of dermatology.