Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
Open accessAbstract
Oculocutaneous albinism (OCA) affects approximately 1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the skin leads to an increased risk for skin cancer. Two common forms and one infrequent form of OCA have been described. OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinase (the rate-limiting enzyme in the production of melanin pigment) and accounts for approximately 40% of OCA worldwide. OCA2 (MIM 203200), the most common form of OCA, is associated with mutations of the P gene and accounts for approximately 50% of OCA worldwide. OCA3 (MIM 203290), a rare form of OCA and also known as "rufous/red albinism," is associated with mutations in TYRP1 (encoding tyrosinase-related protein 1). Analysis of the TYR and P genes in patients with OCA suggests that other genes may be associated with OCA. We have identified the mouse underwhite gene (uw) and its human orthologue, which underlies a new form of human OCA, termed "OCA4." The encoded protein, MATP (for "membrane-associated transporter protein") is predicted to span the membrane 12 times and likely functions as a transporter.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
At the time of the study, mutations in TYR and SLC45A2 were known to be involved in OCA1 and OCA4, but their contribution to the normal range of skin pigmentation between and within populations was just beginning to be studied.
“At the time of this study, mutations in two of these genes, TYR and SLC45A2, were known to be involved in different forms of oculocutaneous albinism (OCA1 [MIM 203100] and OCA4 [MIM 606574]), 49,50 yet their contribution to the normal range of skin pigmentation between and within populations was just beginning to be studied.”
From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [50]
SNPs within the MATP coding region specifying E272K and L374F, and polymorphisms within the promoter, are associated with normal variation in human skin coloration.
“Later, SNPs within the MATP coding region of the SLC45A2 gene specifying amino acids at position E272K (rs26722) and L374F (rs16891982), and also polymorphisms within the promoter, were shown to be associated with normal variation in human skin coloration”
From Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci (2009) · cites this paper as Newton et al., 2001
Cites
Living with Water Stress: Evolution of Osmolyte Systems
Yancey, P. H., Clark, M. E., Hand, S. C., Bowlus, R. D., & Somero, G. N. (1982) · Science · doi:10.1126/science.7112124 · Cited by 3,724 · see citing works
Enzymatic control of pigmentation in mammals
Hearing, V. J., & Tsukamoto, K. (1991) · The FASEB Journal · doi:10.1096/fasebj.5.14.1752358 · Cited by 754 · see citing works
Silvers, W. K. (1979) · Springer eBooks · doi:10.1007/978-1-4612-6164-3 · Cited by 648 · see citing works
A second tyrosinase‐related protein, TRP‐2, is a melanogenic enzyme termed DOPAchrome tautomerase.
Tsukamoto, K., Jackson, I. J., Urabe, K., Montague, P., & Hearing, V. J. (1992) · The EMBO Journal · doi:10.1002/j.1460-2075.1992.tb05082.x · Cited by 561 · see citing works
Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.
Kwon, B. S., Haq, A. K., Pomerantz, S. H., & Halaban, R. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.21.7473 · Cited by 438 · see citing works
The Pigmentary System: Physiology and Pathophysiology
Hsin-Su, Y. (1999) · Archives of Dermatology · doi:10.1001/archderm.135.4.478 · Cited by 430 · see citing works
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
Rinchik, E. M., Bultman, S. J., Horsthemke, B., Lee, S., Strunk, K. M., Spritz, R. A., Avidano, K. M., Jong, M. T. C., & Nicholls, R. D. (1993) · Nature · doi:10.1038/361072a0 · Cited by 413 · see citing works
The pigmentary system : physiology and pathophysiology
Nordlund, J. J. (1998) · Cited by 357 · see citing works
Cooksey, C. J., Garratt, P. J., Land, E. J., Pavel, S., Ramsden, C. A., Riley, P. A., & Smit, N. P. M. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.42.26226 · Cited by 353 · see citing works
Cloning of the cDNa for a Na+/myo-inositol cotransporter, a hypertonicity stress protein.
Kwon, H. M., Yamauchi, A., Uchida, S., Preston, A. S., García-Pérez, A., Burg, M. B., & Handler, J. S. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)42695-6 · Cited by 342 · see citing works
Sucrose transporters in plants: update on function and structure
Lemoine, R. (2000) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/s0005-2736(00)00142-5 · Cited by 307 · see citing works
A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse.
Jackson, I. J. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.12.4392 · Cited by 250 · see citing works
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
Fukamachi, S., Shimada, A., & Shima, A. (2001) · Nature Genetics · doi:10.1038/ng584 · Cited by 245 · see citing works
The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes
Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., & Brilliant, M. H. (1992) · Science · doi:10.1126/science.257.5073.1121 · Cited by 230 · see citing works
Self-citationHomologous pigmentation mutations in human, mouse and other model organisms
Jackson, I. J. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1613 · Cited by 210 · see citing works
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
Tomita, Y., Takeda, A., Okinaga, S., Tagami, H., & Shibahara, S. (1989) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(89)91767-1 · Cited by 207 · see citing works
Stadler, R., Truernit, E., Gahrtz, M., & Sauer, N. (1999) · The Plant Journal · doi:10.1046/j.1365-313x.1999.00527.x · Cited by 203 · see citing works
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., et al. (1996) · PubMed Central · Cited by 191 · see citing works
Self-citationOn beyond classic RACE (rapid amplification of cDNA ends).Preprint
Frohman, M. A. (1994) · Genome Research · doi:10.1101/gr.4.1.s40 · Cited by 183 · see citing works
Aberrant pH of Melanosomes in Pink-Eyed Dilution (p) Mutant Melanocytes
Puri, N., Gardner, J. M., & Brilliant, M. H. (2000) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2000.00108.x · Cited by 172 · see citing works
Self-citationRufous Oculocutaneous Albinism in Southern African Blacks Is Caused by Mutations in the TYRP1 Gene
Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., & Ramsay, M. (1997) · The American Journal of Human Genetics · doi:10.1086/301603 · Cited by 149 · see citing works
Orlow, S. J., Zhou, B.-K., Drucker, M., Pifko‐Hirst, S., Chakraborty, A. K., & Pawelek, J. M. (1994) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12392743 · Cited by 148 · see citing works
Hill, H. Z., LI, W., Xin, P., & Mitchell, D. L. (1997) · Pigment Cell Research · doi:10.1111/j.1600-0749.1997.tb00478.x · Cited by 114 · see citing works
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population
Passmore, L. A., Käsmann‐Kellner, B., & Weber, B. H. F. (1999) · Human Genetics · doi:10.1007/s004390051090 · Cited by 71 · see citing works
Harada, M., Li, Y. F., El‐Gamil, M., Rosenberg, S. A., & Robbins, P. F. (2001) · PubMed · Cited by 62 · see citing works
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 · see citing works
Self-citationBrief communication. A new allelic series for the underwhite gene on mouse chromosome 15
Sweet, H. O., Brilliant, M., Cook, S., Johnson, K., & Davisson, M. (1998) · Journal of Heredity · doi:10.1093/jhered/89.6.546 · Cited by 35 · see citing works
Self-citationOetting, W. S., Gardner, J. M., Fryer, J. P., Ching, A., Durham‐Pierre, D., King, R. A., & Brilliant, M. H. (1998) · PubMed · doi:10.1002/(sici)1098-1004(1998)12:6 · Cited by 23 · see citing works
Self-citationHuman AIM-1: cDNA cloning and reduced expression during endomitosis in megakaryocyte-lineage cells
Katayama, H. G., Ota, T., Morita, K., Terada, Y., Suzuki, F., Katoh, O., & Tatsuka, M. (1998) · Gene · doi:10.1016/s0378-1119(98)00522-8 · Cited by 21 · see citing works
Cloning and tissue expression of the mouse ortholog of AIM1, a βγ-crystallin superfamily member
Teichmann, U., Ray, M. E., Ellison, J., Graham, C., Wistow, G. J., Meltzer, P. S., Trent, J. M., & Pavan, W. J. (1998) · Mammalian Genome · doi:10.1007/s003359900852 · Cited by 18 · see citing works
Hirose, E., & Matsumoto, J. (1993) · Pigment Cell Research · doi:10.1111/j.1600-0749.1993.tb00580.x · Cited by 11 · see citing works
Flagged first, then by citations
4 of the 35 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
MITF: master regulator of melanocyte development and melanoma oncogene
Levy, C., Khaled, M., & Fisher, D. E. (2006) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2006.07.008 · Cited by 1,169 · see citing works
Melanosomes — dark organelles enlighten endosomal membrane transport
Raposo, G., & Marks, M. S. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2258 · Cited by 587 · see citing works
Grønskov, K., Ek, J., & Brondum-Nielsen, K. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-43 · Cited by 569 · see citing works
Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000074 · Cited by 499 · see citing works
“Transcription physiology” of pigment formation in melanocytes: central role of MITF
Vachtenheim, J., & Borovanský, J. (2010) · Experimental Dermatology · doi:10.1111/j.1600-0625.2009.01053.x · Cited by 399 · see citing works
A Genomewide Association Study of Skin Pigmentation in a South Asian Population
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works
Olivares, C., & Solano, F. (2009) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2009.00636.x · Cited by 312 · see citing works
Tyrosinase maturation through the mammalian secretory pathway: bringing color to life
Wang, N., & Hebert, D. N. (2006) · Pigment Cell Research · doi:10.1111/j.1600-0749.2005.00288.x · Cited by 242 · see citing works
Lao, O., de Gruijter, J. M., van Duijn, K., Navarro, A., & Kayser, M. (2007) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00341.x · Cited by 231 · see citing works
Increasing the complexity: new genes and new types of albinism
Montoliu, L., Grønskov, K., Wei, A., Mártinez‐García, M., Fernández, A., Arveiler, B., Morice‐Picard, F., Riazuddin, S., Suzuki, T., Ahmed, Z. M., et al. (2013) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12167 · Cited by 230 · see citing works
Graf, J., Hodgson, R., & van Daal, A. (2005) · Human Mutation · doi:10.1002/humu.20143 · Cited by 221 · see citing works
The Genetic Basis of White Tigers
Xu, X., Dong, G.-X., Hu, X.-S., Miao, L., Zhang, X.-L., Zhang, D.-L., Yang, H.-D., Zhang, T.-Y., Zou, Z.-T., Zhang, T.-T., et al. (2013) · Current Biology · doi:10.1016/j.cub.2013.04.054 · Cited by 212 · see citing works
Update on the regulation of mammalian melanocyte function and skin pigmentation
Kondo, T., & Hearing, V. J. (2011) · Expert Review of Dermatology · doi:10.1586/edm.10.70 · Cited by 207 · see citing works
Signaling pathways in melanosome biogenesis and pathology
Schiaffino, M. V. (2010) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2010.03.023 · Cited by 206 · see citing works
Blasius, A. L., Arnold, C. N., Georgel, P., Rutschmann, S., Xia, Y., Lin, P., Ross, C., Li, X., Smart, N. G., & Beutler, B. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1014051107 · Cited by 203 · see citing works
Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail
Gunnarsson, U., Hellström, A. R., Tixier-Boichard, M., Minvielle, F., Bed’Hom, B., Ito, S., Jensen, P., Rattink, A. P., Vereijken, A., & Andersson, L. (2006) · Genetics · doi:10.1534/genetics.106.063107 · Cited by 192 · see citing works
Tyrosinase gene mutations in oculocutaneous albinism�1 (OCA1): definition of the phenotype
King, R. A., Pietsch, J., Fryer, J. P., Savage, S., Brott, M. J., Russell‐Eggitt, I., Summers, C. G., & Oetting, W. S. (2003) · Human Genetics · doi:10.1007/s00439-003-0998-1 · Cited by 173 · see citing works
Self-citationEvolution of plant sucrose uptake transporters
Reinders, A. (2012) · Frontiers in Plant Science · doi:10.3389/fpls.2012.00022 · Cited by 168 · see citing works
Costin, G., Valencia, J. C., Vieira, W. D., Lamoreux, M. L., & Hearing, V. J. (2003) · Journal of Cell Science · doi:10.1242/jcs.00598 · Cited by 164 · see citing works
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
Inagaki, K., Suzuki, T., Shimizu, H., Ishii, N., Umezawa, Y., Tada, J., Kikuchi, N., Takata, M., Takamori, K., Kishibe, M., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382195 · Cited by 165 · see citing works
A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes
Dessinioti, C., Stratigos, A., Rigopoulos, D., & Katsambas, A. (2009) · Experimental Dermatology · doi:10.1111/j.1600-0625.2009.00896.x · Cited by 164 · see citing works
What controls variation in human skin color?
Barsh, G. S. (2003) · PLoS Biology · doi:10.1371/journal.pbio.0000027 · Cited by 163 · see citing works
Mutation of melanosome protein RAB38 in chocolate mice
Loftus, S. K., Larson, D. M., Baxter, L. L., Antonellis, A., Chen, Y., Wu, X., Jiang, Y. Y., Bittner, M. L., Hammer, J. A., & Pavan, W. J. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.072087599 · Cited by 163 · see citing works
Genetic Architecture of Skin and Eye Color in an African-European Admixed Population
Beleza, S., Johnson, N. A., Candille, S. I., Absher, D. M., Coram, M. A., Lopes, J., Campos, J., Araújo, I. I., Anderson, T. M., Vilhjálmsson, B. J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003372 · Cited by 161 · see citing works
Raposo, G., & Marks, M. S. (2002) · Traffic · doi:10.1034/j.1600-0854.2002.030401.x · Cited by 161 · see citing works
The Genetics of Human Skin and Hair Pigmentation.
Pavan, W., & Sturm, R. (2019) · Annual review of genomics and human genetics (Print) · doi:10.1146/annurev-genom-083118-015230 · Cited by 141 · see citing works
Genetics of pigmentary disorders
Tomita, Y., & Suzuki, T. (2004) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30036 · Cited by 160 · see citing works
Mutational Analysis of Oculocutaneous Albinism: A Compact Review
Kamaraj, B., & Purohit, R. (2014) · BioMed Research International · doi:10.1155/2014/905472 · Cited by 157 · see citing works
Sequences associated with human iris pigmentation
Frudakis, T., Thomas, M., Gaskin, Z., Venkateswarlu, K., Chandra, K. S., Ginjupalli, S., Gunturi, S., Natrajan, S., Ponnuswamy, V. K., & Ponnuswamy, K. N. (2003) · Genetics · doi:10.1093/genetics/165.4.2071 · Cited by 153 · see citing works
Human Melanocyte Biology, Toxicology, and Pathology
Tolleson, W. H. (2005) · Journal of Environmental Science and Health Part C · doi:10.1080/10590500500234970 · Cited by 145 · see citing works
The metabolism of melanin synthesis—From melanocytes to melanoma
Snyman, M., Walsdorf, R. E., Wix, S., & Gill, J. G. (2024) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.13165 · Cited by 151 · see citing works
Dooley, C. M., Schwarz, H., Mueller, K. P., Mongera, A., Konantz, M., Neuhauss, S. C. F., Nüsslein‐Volhard, C., & Geisler, R. (2013) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12053 · Cited by 140 · see citing works
Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation
Ito, S., & Wakamatsu, K. (2010) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2010.00755.x · Cited by 143 · see citing works
Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin
Ito, S., & Wakamatsu, K. (2011) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/j.1468-3083.2011.04278.x · Cited by 140 · see citing works
Toyofuku, K., Valencia, J. C., Kushimoto, T., Costin, G., Virador, V. M., Vieira, W. D., Ferrans, V. J., & Hearing, V. J. (2002) · Pigment Cell Research · doi:10.1034/j.1600-0749.2002.02007.x · Cited by 140 · see citing works
A curated gene list for expanding the horizons of pigmentation biology
Baxter, L. L., Watkins‐Chow, D. E., Pavan, W. J., & Loftus, S. K. (2019) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12743 · Cited by 136 · see citing works
Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism
Wilk, M. A., McAllister, J. T., Cooper, R. F., Dubis, A. M., Patitucci, T. N., Summerfelt, P., Anderson, J. L., Stepien, K. E., Costakos, D. M., Connor, T. B., et al. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-13217 · Cited by 136 · see citing works
Self-citationA mutation in the MATP gene causes the cream coat colour in the horse
Mariat, D., Taourit, S., & Guérin, G. (2003) · Genetics Selection Evolution · doi:10.1186/1297-9686-35-1-119 · Cited by 142 · see citing works
Predicting Phenotype from Genotype: Normal Pigmentation
Valenzuela, R. K., Henderson, M. S., Walsh, M. H., Garrison, N. A., Kelch, J., Cohen-Barak, O., Erickson, D. T., Meaney, F., Walsh, J. B., Cheng, K. C., et al. (2010) · Journal of Forensic Sciences · doi:10.1111/j.1556-4029.2009.01317.x · Cited by 131 · see citing works
Self-citationPopulation differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2
Soejima, M., & Koda, Y. (2006) · International Journal of Legal Medicine · doi:10.1007/s00414-006-0112-z · Cited by 128 · see citing works
Simeonov, D. R., Wang, X., Wang, C., Sergeev, Y. V., Dolinska, M. B., Bower, M., Fischer, R. E., Winer, D., Dubrovsky, G., Balog, J. Z., et al. (2013) · Human Mutation · doi:10.1002/humu.22315 · Cited by 131 · see citing works
Bin, B., Bhin, J., Yang, S. H., Shin, M., Nam, Y., Choi, D. H., Shin, D. W., Lee, A., Hwang, D., Cho, E., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0129273 · Cited by 129 · see citing works
The Concise Guide to PHARMACOLOGY 2013/14: Transporters
Alexander, S. P. H., Benson, H. E., Faccenda, E., Pawson, A. J., Sharman, J. L., Spedding, M., Peters, J. A., Harmar, A. J., & Collaborators, C. (2013) · British Journal of Pharmacology · doi:10.1111/bph.12450 · Cited by 126 · see citing works
Determinants, maintenance, and function of organellar pH
Freeman, S. A., Grinstein, S., & Orlowski, J. (2022) · Physiological Reviews · doi:10.1152/physrev.00009.2022 · Cited by 127 · see citing works
Hutton, S. M., & Spritz, R. A. (2008) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.109 · Cited by 125 · see citing works
Melanosome Biogenesis in the Pigmentation of Mammalian Skin
Le, L., Sirés-Campos, J., Raposo, G., Delevoye, C., & Marks, M. S. (2021) · Integrative and Comparative Biology · doi:10.1093/icb/icab078 · Cited by 119 · see citing works
A Genome Scan for Eye Color in 502 Twin Families: Most Variation is due to a QTL on Chromosome 15q
Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y., Hayward, N. K., et al. (2004) · Twin Research · doi:10.1375/twin.7.2.197 · Cited by 119 · see citing works
Membrane transport proteins in melanosomes: Regulation of ions for pigmentation
Wiriyasermkul, P., Moriyama, S., & Nagamori, S. (2020) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2020.183318 · Cited by 118 · see citing works
Cook, A. L., Chen, W., Thurber, A. E., Smit, D. J., Smith, A. G., Bladen, T. G., Brown, D. L., Duffy, D. L., Pastorino, L., Bianchi-Scarra, G., et al. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.211 · Cited by 116 · see citing works
A Comprehensive Genetic Study of Autosomal Recessive Ocular Albinism in Caucasian Patients
Hutton, S. M., & Spritz, R. A. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0791 · Cited by 115 · see citing works
SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation
Le, L., Escobar, I. E., Ho, T., Lefkovith, A. J., Latteri, E., Haltaufderhyde, K. D., Dennis, M. K., Plowright, L., Sviderskaya, E. V., Bennett, D. C., et al. (2020) · Molecular Biology of the Cell · doi:10.1091/mbc.e20-03-0200 · Cited by 111 · see citing works
Identification of Aim-1 as the underwhiteMouse Mutant and Its Transcriptional Regulation by MITF
Du, J., & Fisher, D. E. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m110229200 · Cited by 105 · see citing works
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4
Suzuki, T., & Tomita, Y. (2008) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2007.12.008 · Cited by 104 · see citing works
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)
King, R. A., Willaert, R. K., Schmidt, R. M., Pietsch, J., Savage, S., Brott, M. J., Fryer, J. P., Summers, C. G., & Oetting, W. S. (2003) · The American Journal of Human Genetics · doi:10.1086/377569 · Cited by 98 · see citing works
Self-citationMutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4
Rundshagen, U., Zühlke, C., Opitz, S., SCHWINGER, E., & Käsmann‐Kellner, B. (2004) · Human Mutation · doi:10.1002/humu.10311 · Cited by 96 · see citing works
Chapter 8 Evolution and Development in the Cavefish Astyanax
Jeffery, W. R. (2009) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(09)01008-4 · Cited by 90 · see citing works
The Tyr (albino) locus of the laboratory mouse
Beermann, F., Orlow, S. J., & Lamoreux, M. L. (2004) · Mammalian Genome · doi:10.1007/s00335-004-4002-8 · Cited by 90 · see citing works
The Melanosome: An Ideal Model to Study Cellular Differentiation
Kushimoto, T., Valencia, J. C., Costin, G., Toyofuku, K., Watabe, H., Yasumoto, K., Rouzaud, F., Vieira, W. D., & Hearing, V. J. (2003) · Pigment Cell Research · doi:10.1034/j.1600-0749.2003.00034.x · Cited by 88 · see citing works
The retinal pigmentation pathway in human albinism: Not so black and white
Bakker, R., Wagstaff, E. L., Kruijt, C. C., Emri, E., van Karnebeek, C., Hoffmann, M. B., Brooks, B. P., Boon, C. J. F., Montoliu, L., van Genderen, M. M., et al. (2022) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2022.101091 · Cited by 86 · see citing works
Evidence for recent positive selection at the human AIM1 locus in a European population
Soejima, M., Tachida, H., Ishida, T., Sano, A., & Koda, Y. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msj018 · Cited by 84 · see citing works
Birth Prevalence and Mutation Spectrum in Danish Patients with Autosomal Recessive Albinism
Grønskov, K., Ek, J., Sand, A., Scheller, R., Bygum, A., Brixen, K., Brøndum‐Nielsen, K., & Rosenberg, T. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-2639 · Cited by 85 · see citing works
Chéli, Y., Luciani, F., Khaled, M., Beuret, L., Bille, K., Gounon, P., Ortonne, J. P., Bertolotto, C., & Ballotti, R. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.005819 · Cited by 82 · see citing works
Lemer, S., Saulnier, D., Gueguen, Y., & Planes, S. (2015) · BMC Genomics · doi:10.1186/s12864-015-1776-x · Cited by 81 · see citing works
Colorful DNA polymorphisms in humans
Liu, F., Wen, B., & Kayser, M. (2013) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2013.03.013 · Cited by 81 · see citing works
Kelsh, R. N., Inoue, C., Momoi, A., Kondoh, H., Furutani‐Seiki, M., Ozato, K., & Wakamatsu, Y. (2004) · Mechanisms of Development · doi:10.1016/j.mod.2004.01.004 · Cited by 80 · see citing works
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient
Rooryck, C., Roudaut, C., Robine, E., Müsebeck, J., & Arveiler, B. (2006) · Pigment Cell Research · doi:10.1111/j.1600-0749.2006.00298.x · Cited by 78 · see citing works
Chemical and biochemical control of skin pigmentation with special emphasis on mixed melanogenesis
Wakamatsu, K., Zippin, J. H., & Ito, S. (2021) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12970 · Cited by 76 · see citing works
Mouse coat color mutations: From fancy mice to functional genomics
Steingrı́msson, E., Copeland, N. G., & Jenkins, N. A. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20840 · Cited by 77 · see citing works
BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery
Dennis, M. K., Mantegazza, A. R., Snir, O. L., Tenza, D., Acosta-Ruiz, A., Delevoye, C., Zorger, R., Sitaram, A., Jesus-Rojas, W. D., Ravichandran, K., et al. (2015) · The Journal of Cell Biology · doi:10.1083/jcb.201410026 · Cited by 77 · see citing works
Cullinane, A. R., Vilboux, T., O’Brien, K., Curry, J. A., Maynard, D., Carlson-Donohoe, H., Ciccone, C., Program, N. C. S., Markello, T. C., Gunay‐Aygun, M., et al. (2011) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.157 · Cited by 74 · see citing works
Synteny and candidate gene prediction using an anchored linkage map of Astyanax mexicanus
Gross, J. B., Protas, M. E., Conrad, M. D., Scheid, P. E., Vidal, O., Jeffery, W. R., Borowsky, R. L., & Tabin, C. J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0806238105 · Cited by 74 · see citing works
Human and mouse disorders of pigmentation
Spritz, R. A., Chiang, P.-W., Oiso, N., & Alkhateeb, A. M. (2003) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(03)00059-5 · Cited by 74 · see citing works
Graf, J., Voisey, J., Hughes, I., & van Daal, A. (2007) · Human Mutation · doi:10.1002/humu.20504 · Cited by 72 · see citing works
Tigers of the World: Genomics and Conservation
Luo, S., Liu, Y.-C., & Xu, X. J. (2019) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-020518-115106 · Cited by 71 · see citing works
Identification of an animal sucrose transporter
Meyer, H., Vitavska, O., & Wieczorek, H. (2011) · Journal of Cell Science · doi:10.1242/jcs.082024 · Cited by 67 · see citing works
Variants of theMATP/SLC45A2gene are protective for melanoma in the French population
Guedj, M., Bourillon, A., Combadière, C., Rodero, M. P., Dieudé, P., Descamps, V., Dupin, N., Wolkenstein, P., Aegerter, P., Lebbé, C., et al. (2008) · Human Mutation · doi:10.1002/humu.20823 · Cited by 67 · see citing works
Kamaraj, B., & Purohit, R. (2016) · Journal of Cellular Biochemistry · doi:10.1002/jcb.25555 · Cited by 67 · see citing works
Nakayama, K., Fukamachi, S., Kimura, H., Koda, Y., Soemantri, A., & Ishida, T. (2002) · Journal of Human Genetics · doi:10.1007/s100380200007 · Cited by 66 · see citing works
Stem cells as source for retinal pigment epithelium transplantation
Bertolotti, E., Neri, A., Camparini, M., Macaluso, C., & Marigo, V. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.06.002 · Cited by 66 · see citing works
Functional assessment of human coding mutations affecting skin pigmentation using zebrafish
Tsetskhladze, Z. R., Canfield, V. A., Ang, K. C., Wentzel, S. M., Reid, K. P., Berg, A. S., Johnson, S. L., Kawakami, K., & Cheng, K. C. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047398 · Cited by 63 · see citing works
Bellono, N. W., & Oancea, E. (2014) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2014.06.020 · Cited by 63 · see citing works
The Ocular Albinism Type 1 ( OA1 ) Gene Controls Melanosome Maturation and Size
Cortese, K., Giordano, F., Surace, E. M., Venturi, C. B., Ballabio, A., Tacchetti, C., & Marigo, V. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0834 · Cited by 64 · see citing works
Dolinska, M. B., Kus, N. J., Farney, S. K., Wingfield, P. T., Brooks, B. P., & Sergeev, Y. V. (2016) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12546 · Cited by 64 · see citing works
Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse
Fernández, A., Hayashi, M., Garrido, G., Montero, A., Guardia, A., Suzuki, T., & Montoliu, L. (2021) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12982 · Cited by 63 · see citing works
Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice
Vogel, P., Read, R. W., Vance, R. B., Platt, K. A., Troughton, K., & Rice, D. S. (2008) · Veterinary Pathology · doi:10.1354/vp.45-2-264 · Cited by 63 · see citing works
Metsalu, T., Viltrop, T., Tiirats, A., Rajashekar, B., Reimann, E., Kõks, S., Rull, K., Milani, L. A., Acharya, G., Basnet, P., et al. (2014) · Epigenetics · doi:10.4161/15592294.2014.970052 · Cited by 62 · see citing works
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
Prado-Martinez, J., Hernando-Herraez, I., Lorente-Galdós, B., Dabad, M., Ramírez, Ó., Baeza-Delgado, C., Morcillo-Suárez, C., Alkan, C., Hormozdiari, F., Raineri, E., et al. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-363 · Cited by 62 · see citing works
Genotype versus phenotype: Human pigmentation
Tully, G. (2007) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2007.01.005 · Cited by 61 · see citing works
Genetic disorders of pigmentation
Passeron, T., Mantoux, F., & Ortonne, J. P. (2005) · Clinics in Dermatology · doi:10.1016/j.clindermatol.2004.09.013 · Cited by 60 · see citing works
Structure and sucrose binding mechanism of the plant SUC1 sucrose transporter
Bavnhøj, L., Driller, J. H., Zuzic, L., Stange, A. D., Schiøtt, B., & Pedersen, B. P. (2023) · Nature Plants · doi:10.1038/s41477-023-01421-0 · Cited by 58 · see citing works
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
Onojafe, I. F., Adams, D. R., Simeonov, D. R., Zhang, J., Chan, C., Bernardini, I. M., Sergeev, Y. V., Dolinska, M. B., Alur, R. P., Brilliant, M. H., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci59372 · Cited by 57 · see citing works
Self-citationIbarrola‐Villava, M., Hu, H., Guedj, M., Fernández, L. P., Descamps, V., Basset‐Séguin, N., Bagot, M., Benssussan, A., Saïag, P., Fargnoli, M. C., et al. (2012) · European Journal of Cancer · doi:10.1016/j.ejca.2012.03.006 · Cited by 56 · see citing works
Fournier, H., Calcagni, N., Morice‐Picard, F., & Quintard, B. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02629-1 · Cited by 53 · see citing works
Racioppi, C., Kamal, A. K., Razy‐Krajka, F., Gambardella, G., Zanetti, L. C. D. S., di Bernardo, D., Sanges, R., Christiaen, L., & Ristoratore, F. (2014) · Nature Communications · doi:10.1038/ncomms5830 · Cited by 53 · see citing works
Putative role of HIF transcriptional activity in melanocytes and melanoma biology
Zbytek, B., Peacock, D. L., Seagroves, T. N., & Slominski, A. T. (2013) · Dermato-Endocrinology · doi:10.4161/derm.22678 · Cited by 52 · see citing works
Yi, Z., Garrison, N. A., Cohen‐Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., & Brilliant, M. H. (2003) · The American Journal of Human Genetics · doi:10.1086/345380 · Cited by 53 · see citing works
Self-citationThe SLC45 gene family of putative sugar transporters
Vitavska, O., & Wieczorek, H. (2013) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2012.05.014 · Cited by 53 · see citing works
Understanding the evolution of human pigmentation: recent contributions from population genetics
Rees, J. L., & Harding, R. M. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.358 · Cited by 50 · see citing works
Identifying Human Albinism: A Comparison of VEP and fMRI
Hagen, E. V. D., Hoffmann, M. B., & Morland, A. B. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0458 · Cited by 48 · see citing works
Hawkes, J. E., Cassidy, P. B., Manga, P., Boissy, R. E., Goldgar, D. E., Cannon‐Albright, L., Florell, S. R., & Leachman, S. A. (2012) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2012.09.016 · Cited by 48 · see citing works
- Authors
- Newton, J. M., Cohen-Barak, O., Hagiwara, N., Gardner, J. M., Davisson, M. T., King, R. A., & Brilliant, M. H.
- Affiliations
- University of Arizona (US)
- Jackson Laboratory (US)
- University of Minnesota (US)
- Corresponding author
- Brilliant, Murray H.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-11
- Volume
- 69
- Issue
- 5
- Pages
- 981-988
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1274374
- OpenAlex
- W2023560082
- Cited by
- 355
- References
- 35
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 13 · 2023: 15 · 2022: 8 · 2021: 11 · 2020: 10 · 2019: 10 · 2018: 15 · 2017: 17 · 2016: 13 · 2015: 13 · 2014: 20 · 2013: 20 · 2012: 20
- FWCI
- 4.42
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- National Institutes of Health
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (AR4596)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Keywords
- oculocutaneous albinism, human orthologs, MatP, membrane transporters, hypopigmentation, melanin, tyrosinase, P gene, TRP-1, genetic mutations, skin cancer risk
- MeSH terms
- Adult, Alleles, Amino Acid Sequence, Animals, Antigens, Neoplasm, Child, Preschool, Chromosomes, Human, Pair 5, Cloning, Molecular, DNA Mutational Analysis, Exons, Eye, Homozygote, Humans, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Pigmentation, Protein Conformation, Proteins, RNA, Messenger, Albinism, Oculocutaneous, Sequence Alignment, Conserved Sequence, Physical Chromosome Mapping, Membrane Transport Proteins, Symporters, Mice
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
