The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Human pigmentation genes: identification, structure and consequences of polymorphic variation
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
The evolution of human skin coloration
Jablonski, N. G., & Chaplin, G. (2000) · Journal of Human Evolution · doi:10.1006/jhev.2000.0403 · Cited by 1,212 · cited 2×
“The influence of environment as a selective pressure for skin colour has led to the postulate that in Northern European populations there has been selection against dark skin in places where levels of ambient sunlight are low so as to prevent rickets when the diet is poor in vitamin D (Robins, 1991), whereas there is…”
BackgroundValverde, P., Healy, E., Jackson, I., Rees, J. L., & Thody, A. J. (1995) · Nature Genetics · doi:10.1038/ng1195-328 · Cited by 999
Palmer, J. S., Duffy, D. L., Box, N. F., Aitken, J. F., O'Gorman, L. E., Green, A. C., Hayward, N. K., Martin, N. G., & Sturm, R. A. (2000) · The American Journal of Human Genetics · doi:10.1086/302711 · Cited by 503
Self-citationThe protease-activated receptor 2 regulates pigmentation via keratinocyte-melanocyte interactions
Seiberg, M., Paine, C., Sharlow, E., Andrade-Gordon, P., Costanzo, M., Eisinger, M., & Shapiro, S. S. (2000) · Experimental Cell Research · doi:10.1006/excr.1999.4692 · Cited by 238 · cited 2×
“Experimental evidence implicates the keratinocyte receptor PAR2 as being involved in melanosome transfer (Seiberg et al., 2000a,b).”
BackgroundInhibition of Melanosome Transfer Results in Skin Lightening1
Seiberg, M., Paine, C., Sharlow, E., Eisinger, M., Shapiro, S. S., Andrade-Gordon, P., & Costanzo, M. (2000) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2000.00035.x · Cited by 238
Bahadoran, P., Aberdam, E., Mantoux, F., Buscà, R., Bille, K., Yalman, N., de Saint-Basile, G., Casaroli-Marano, R., Ortonne, J.-P., & Ballotti, R. (2001) · The Journal of Cell Biology · doi:10.1083/jcb.152.4.843 · Cited by 221
Fuller, B. B., Spaulding, D. T., & Smith, D. R. (2001) · Experimental Cell Research · doi:10.1006/excr.2000.5092 · Cited by 156
The underwhite (uw) locus acts autonomously and reduces the production of melanin
Lehman, A. L., Silvers, W. K., Puri, N., Wakamatsu, K., Ito, S., & Brilliant, M. H. (2000) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2000.00107.x · Cited by 42
Research works printed but not linked: 66
- Abdel-Malek, 2000, The melanocortin-1 receptor is a key regulator of human cutaneous pigmentation, Pigment Cell Res., 13, 156, 10.1034/j.1600-0749.13.s8.28.x · DOI
- Ancans, 2001, Melanosomal pH controls rate of melanogenesis, eumelanin/phaeomelanin ratio and melanosome maturation in melanocytes and melanoma cells, Exp. Cell. Res., 268, 26, 10.1006/excr.2001.5251 · DOI · Paper page
- Ancans, 2001, Melanosomal pH, pink locus protein and their roles in melanogenesis, J. Invest. Dermatol., 117, 158, 10.1046/j.0022-202x.2001.01397.x · DOI
- Bailin, 1996, Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus, J. Invest. Dermatol., 106, 24, 10.1111/1523-1747.ep12326976 · DOI
- Barsh, 1996, The genetics of pigmentation: from fancy genes to complex traits, Trends Genet., 12, 299, 10.1016/0168-9525(96)10031-7 · DOI · Paper page
- Bastiaens, 2001, Melanocortin-1 receptor gene variants determine the risk of non-melanoma skin cancer independently of fair skin and red hair, Am. J. Hum. Genet., 68, 884, 10.1086/319500 · DOI · Paper page
- Box, 2001, Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma, J. Invest. Dermatol., 116, 224, 10.1046/j.1523-1747.2001.01224.x · DOI · Paper page
- Box, 2001, MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations, Am. J. Hum. Genet., 69, 765, 10.1086/323412 · DOI · Paper page
- Box, 1998, Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1, Mamm. Genome, 9, 50, 10.1007/s003359900678 · DOI
- Box, 1997, Characterization of melanocyte stimulating hormone variant alleles in twins with red hair, Hum. Mol. Genet., 6, 1891, 10.1093/hmg/6.11.1891 · DOI · Paper page
- Budd, 1995, Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles, Genomics, 29, 35, 10.1006/geno.1995.1212 · DOI
- Busca, 2000, Cyclic AMP a key messenger in the regulation of skin pigmentation, Pigment Cell Res., 13, 60, 10.1034/j.1600-0749.2000.130203.x · DOI · Paper page
- Cassady, 1994, Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNA, Gene, 143, 295, 10.1016/0378-1119(94)90114-7 · doi:10.1016/0378-1119(94)90114-7
- Chakraborty, 1996, Polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein, Eur. J. Biochem., 236, 180, 10.1111/j.1432-1033.1996.t01-1-00180.x · DOI
- Compton, 2000, A polymorphic protease-activated receptor 2 (PAR2) displaying reduced sensitivity to trypsin and differential responses to PAR agonists, J. Biol. Chem., 275, 39207, 10.1074/jbc.M007215200 · doi:10.1074/jbc.m007215200
- del Marmol, 1996, Tyrosinase and related proteins in mammalian pigmentation, FEBS Lett., 381, 165, 10.1016/0014-5793(96)00109-3 · DOI · Paper page
- Flanagan, 2000, Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation [In Process Citation], Hum. Mol. Genet., 9, 2531, 10.1093/hmg/9.17.2531 · DOI · Paper page
- Frandberg, 1998, Human pigmentation phenotype: a point mutation generates non-functional MSH receptor, Biochem. Biophys. Res. Commun., 245, 490, 10.1006/bbrc.1998.8459 · DOI
- Fukamachi, 2001, Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka, Nat. Genet., 28, 381, 10.1038/ng584 · DOI · Paper page
- Furumura, 2001, Involvement of ITF2 in the transcriptional regulation of melanogenic genes, J. Biol. Chem., 30, 28147, 10.1074/jbc.M101626200 · doi:10.1074/jbc.m101626200
- Furumura, 1998, Characterization of genes modulated during pheomelanogenesis using differential display, Proc. Natl. Acad. Sci. USA, 95, 7374, 10.1073/pnas.95.13.7374 · DOI
- Gahl, 1995, Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes, Pigment Cell Res., 8, 229, 10.1111/j.1600-0749.1995.tb00668.x · DOI
- Giebel, 1991, Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment, Genomics, 9, 435, 10.1016/0888-7543(91)90409-8 · DOI · Paper page
- Harding, 2000, Evidence for variable selective pressures at MC1R, Am. J. Hum. Genet., 66, 1351, 10.1086/302863 · DOI · Paper page
- Healy, 2000, Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair, Lancet, 355, 1072, 10.1016/S0140-6736(00)02042-0 · DOI
- Hume, 2001, Rab27a regulates the peripheral distribution of melanosomes in melanocytes, J. Cell. Biol., 152, 795, 10.1083/jcb.152.4.795 · DOI · Paper page
- 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062 · DOI · Paper page
- Incerti, 2000, Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1, Hum. Mol. Genet., 9, 2781, 10.1093/hmg/9.19.2781 · DOI
- Iozumi, 1993, Role of tyrosinase as the determinant of pigmentation in cultured human melanocytes, J. Invest. Dermatol., 100, 806, 10.1111/1523-1747.ep12476630 · DOI · Paper page
- Jackson, 1997, Homologous pigmentation mutations in human, mouse and other model organisms, Hum. Mol. Genet., 6, 1613, 10.1093/hmg/6.10.1613 · DOI · Paper page
- Jimbow, 2000, Intracellular vesicular trafficking of tyrosinase gene family protein in eu- and pheomelanosome biogenesis, Pigment Cell Res., 13, 110, 10.1034/j.1600-0749.13.s8.20.x · DOI
- Jimenez-Cervantes, 1998, Molecular interactions within the melanogenic complex: formation of heterodimers of tyrosinase and TRP1 from B16 mouse melanoma, Biochem. Biophys. Res. Commun., 253, 761, 10.1006/bbrc.1998.9817 · doi:10.1006/bbrc.1998.9817
- Kim, 1996, Genomic organization and FISH mapping of human Pmel 17, the putative silver locus, Pigment Cell Res., 9, 42, 10.1111/j.1600-0749.1996.tb00085.x · DOI
- Kobayashi, 1998, Tyrosinase stabilization by Tyrp1 (the brown locus protein), J. Biol. Chem., 273, 31801, 10.1074/jbc.273.48.31801 · DOI · Paper page
- Kobayashi, 1995, Modulation of melanogenic protein expression during the switch from eu- to pheomelanogenesis, J. Cell. Sci., 108, 2301, 10.1242/jcs.108.6.2301 · DOI · Paper page
- Krude, 1998, Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans, Nat. Genet., 19, 155, 10.1038/509 · DOI · Paper page
- Lamoreux, 1995, The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: in support of a unifying hypothesis, Pigment Cell Res., 8, 263, 10.1111/j.1600-0749.1995.tb00673.x · DOI
- Lee, 1994, Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2), Hum. Mol. Genet., 3, 2047
- Lee, 1996, 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, J. Invest. Dermatol., 106, 605, 10.1111/1523-1747.ep12345163 · DOI
- Lindner, 2000, Delayed onset of inflammation in protease-activated receptor-2- deficient mice, J. Immunol., 165, 6504, 10.4049/jimmunol.165.11.6504 · DOI · Paper page
- Manga, 2001, In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified, Am. J. Hum. Genet., 68, 782, 10.1086/318800 · doi:10.1086/318800
- Newton, 2001, Identification of the mouse underwhite (uw) gene and its human ortholog: occulocutaneous albinism type 4 (OCA4), Pigment Cell Res., 14, 225
- Owens, 1999, Genomic views of human history, Science, 286, 451, 10.1126/science.286.5439.451 · DOI
- Passmore, 1999, Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population, Hum. Genet., 105, 200, 10.1007/s004390051090 · DOI
- Ponnazhagan, 1994, Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region, J. Invest. Dermatol., 102, 744, 10.1111/1523-1747.ep12376924 · DOI
- Potterf, 1998, Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes, Exp. Cell. Res., 244, 319, 10.1006/excr.1998.4173 · DOI
- Potterf, 1999, Cysteine transport in melanosomes from murine melanocytes, Pigment Cell Res., 12, 4, 10.1111/j.1600-0749.1999.tb00502.x · DOI
- Puri, 2000, Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes, J. Invest. Dermatol., 115, 607, 10.1046/j.1523-1747.2000.00108.x · DOI · Paper page
- Rana, 1999, High polymorphism at the human melanocortin 1 receptor locus, Genetics, 151, 1547, 10.1093/genetics/151.4.1547 · DOI · Paper page
- Samaraweera, 2001, The mouse ocular albinism 1 gene product is an endolysosomal protein, Exp. Eye Res., 72, 319, 10.1006/exer.2000.0962 · doi:10.1006/exer.2000.0962
- Sato, 1999, Structure and developmental expression of the ascidian TRP gene: insights into the evolution of pigment cell-specific gene expression, Dev. Dyn., 215, 225, 10.1002/(SICI)1097-0177(199907)215:3<225::AID-AJA5>3.0.CO;2-S · doi:10.1002/(sici)1097-0177(199907)215:3<225::aid-aja5>3.0.co;2-s
- Schiaffino, 1999, Ocular albinism: evidence for a defect in an intracellular signal transduction system, Nat. Genet., 23, 108, 10.1038/12715 · DOI
- Schioth, 1999, Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair, Biochem. Biophys. Res. Commun., 260, 488, 10.1006/bbrc.1999.0935 · DOI · Paper page
- Smit, 1999, Interspersed repeats and other mementos of transposable elements in mammalian genomes, Curr. Opin. Genet. Dev., 9, 657, 10.1016/S0959-437X(99)00031-3 · DOI · Paper page
- Smith, 1998, Melanocortin 1 receptor variants in an Irish population, J. Invest. Dermatol., 111, 119, 10.1046/j.1523-1747.1998.00252.x · DOI · Paper page
- Solano, 2000, New insights on the structure of the mouse silver locus and on the function of the silver protein, Pigment Cell Res., 13, 118, 10.1111/j.0893-5785.2000.130821.x · DOI
- Sturm, 1998, Human pigmentation genetics: the difference is only skin deep, BioEssays, 20, 712, 10.1002/(SICI)1521-1878(199809)20:9<712::AID-BIES4>3.0.CO;2-I · DOI · Paper page
- Sturm, 1995, Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family, Genomics, 29, 24, 10.1006/geno.1995.1211 · DOI
- Suzuki, 1997, Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin, J. Invest. Dermatol., 108, 838, 10.1111/1523-1747.ep12292572 · DOI · Paper page
- Sweet, 1998, A new allelic series for the underwhite gene on mouse chromosome 15, J. Hered., 89, 546, 10.1093/jhered/89.6.546 · DOI
- Voisey, 2001, A polymorphism study of the human agouti gene and its association with MC1R, Pigment Cell Res., 14, 264, 10.1034/j.1600-0749.2001.140406.x · DOI
- Weterman, 1995, nmb, a novel gene, is expressed in low-metastatic human melanoma cell lines and xenografts, Int. J. Cancer, 60, 73, 10.1002/ijc.2910600111 · DOI · Paper page
- Wilson, 2000, A mutation in Rab27a causes the vesicle transport defects observed in ashen mice, Proc. Natl. Acad. Sci. USA, 97, 7933, 10.1073/pnas.140212797 · DOI · Paper page
- Wu, 1998, Visualisation of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosinV function in vivo, J. Cell Biol., 143, 1899, 10.1083/jcb.143.7.1899 · DOI · Paper page
- Wu, 2001, Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle, J. Cell. Sci., 114, 1091, 10.1242/jcs.114.6.1091 · DOI · Paper page
- Yaswen, 1999, Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin, Nat. Med., 5, 1066, 10.1038/12506 · DOI · Paper page
Cited by
Melanin pigmentation in mammalian skin and its hormonal regulation
Slominski, A., Tobin, D. J., Shibahara, S., & Wortsman, J. (2004) · Physiological Reviews · doi:10.1152/physrev.00044.2003 · Cited by 2,015
Encoded evidence: DNA in forensic analysis
Jobling, M. A., & Gill, P. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1455 · Cited by 623
Skin pigmentation, biogeographical ancestry and admixture mapping
Shriver, M. D., Parra, E. J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., et al. (2003) · Human Genetics · doi:10.1007/s00439-002-0896-y · Cited by 549
Genetics of hair and skin color
Rees, J. L. (2003) · Annual Review of Genetics · doi:10.1146/annurev.genet.37.110801.143233 · Cited by 485
The Many Substrates of Presenilin/γ-Secretase
Haapasalo, A., & Kovacs, D. M. (2011) · Journal of Alzheimer's Disease · doi:10.3233/jad-2011-101065 · Cited by 458
Metadata
- Authors
- Sturm, R. A., Teasdale, R. D., & Box, N. F.
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2001-10
- Volume
- 277
- Issue
- 1-2
- Pages
- 49-62
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W2081224298
- Cited by
- 390
- References
- 9
- FWCI
- 4.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Human pigmentation genes: identification, structure and consequences of polymorphic variation. https://app.cochat.ai/papers/10.1016/s0378-1119(01)00694-1
- The paper
- Sturm, R. A., Teasdale, R. D., & Box, N. F. (2001). Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene. https://doi.org/10.1016/s0378-1119(01)00694-1
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.