Distinctive distribution of AIM1 polymorphism among major human populations with different skin color

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

Newton, J. M., Cohen-Barak, O., Hagiwara, N., Gardner, J. M., Davisson, M. T., King, R. A., & Brilliant, M. H. (2001) · The American Journal of Human Genetics · doi:10.1086/324340 · Cited by 355 · 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

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation

Flanagan, N. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.17.2531 · Cited by 276 · 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

Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells.

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

Whole-Genome Patterns of Common DNA Variation in Three Human Populations

Hinds, D., Stuve, L., Nilsen, G. B., Halperin, E., Eskin, E., Ballinger, D., Frazer, K., & Cox, D. (2005) · Science · doi:10.1126/science.1105436 · Cited by 1,245 · see citing works

Robust Identification of Local Adaptation from Allele Frequencies

Günther, T., & Coop, G. (2013) · Genetics · doi:10.1534/genetics.113.152462 · Cited by 591 · see citing works

Genetic evidence for the convergent evolution of light skin in Europeans and East Asians

Norton, H. L., Kittles, R. A., Parra, E., McKeigue, P., Mao, X., Cheng, K., Canfield, V. A., Bradley, D. G., McEvoy, B., & Shriver, M. D. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msl203 · Cited by 410 · 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

Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms

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

Single nucleotide polymorphisms in theMATP gene are associated with normal human pigmentation variation

Graf, J., Hodgson, R., & van Daal, A. (2005) · Human Mutation · doi:10.1002/humu.20143 · Cited by 221 · see citing works

Human pigmentation variation: evolution, genetic basis, and implications for public health

Parra, E. J. (2007) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20727 · Cited by 191 · see citing works

Predicting Phenotype from Genotype: Normal Pigmentation*

Valenzuela, R. K., Henderson, M., Walsh, M. H., Garrison, N. A., Kelch, J. T., Cohen‐Barak, O., Erickson, D. T., Meaney, F. J., Walsh, J. B., Cheng, K. C., et al. (2010) · Journal of Forensic Sciences · doi:10.1111/j.1556-4029.2009.01317.x · Cited by 132 · see citing works

Population 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

Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis

Gerstenblith, M. R., Shi, J., & Landi, M. T. (2010) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2010.00730.x · Cited by 128 · 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

Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci

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 Comparison of the Sucrose Transporter Systems of Different Plant Species

Kühn, C. (2003) · Plant Biology · doi:10.1055/s-2003-40798 · Cited by 113 · see citing works

Melanocortin 1 receptor variants: Functional role and pigmentary associations

Dessinioti, C., Antoniou, C., Katsambas, A., & Stratigos, A. J. (2011) · Photochemistry and Photobiology · doi:10.1111/j.1751-1097.2011.00970.x · Cited by 111 · see citing works

Adaptation of human skin color in various populations

Deng, L., & Xu, S. (2017) · Hereditas · doi:10.1186/s41065-017-0036-2 · Cited by 112 · see citing works

Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans

Makova, K., & Norton, H. (2005) · Peptides · doi:10.1016/j.peptides.2004.12.032 · Cited by 101 · see citing works

Mutations 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

Transcriptomics of morphological color change in polychromatic Midas cichlids

Henning, F., Jones, J. C., Franchini, P., & Meyer, A. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-171 · Cited by 93 · 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

Promoter polymorphisms in the<i>MATP</i>(<i>SLC45A2</i>) gene are associated with normal human skin color variation

Graf, J., Voisey, J., Hughes, I., & van Daal, A. (2007) · Human Mutation · doi:10.1002/humu.20504 · Cited by 72 · 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

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients

Pérez‐Oliva, A. B., Fernéndez, L. P., de Torre‐Minguela, C., Herráiz, C., Martínez‐Escribano, J., Benitez, J. J., Teruel, J. A., García-Borrón, J. C., Jiménez‐Cervantes, C., & Ribas, G. (2009) · Human Mutation · doi:10.1002/humu.20971 · Cited by 58 · 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

The 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

Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians

Nakayama, K., Soemantri, A., Jin, F., Dashnyam, B., Ohtsuka, R., Duanchang, P., Isa, M. N., Settheetham‐Ishida, W., Harihara, S., & Ishida, T. (2006) · Human Genetics · doi:10.1007/s00439-006-0141-1 · Cited by 50 · see citing works

Genetic variants in PARP1 (rs3219090) and IRF4(rs12203592) genes associated with melanoma susceptibility in a Spanish population

Peña-Chilet, M., Blanquer-Maceiras, M., Ibarrola‐Villava, M., Martínez‐Cadenas, C., Martín‐González, M., Gómez‐Fernández, C., Mayor, M., Aviles, J. A., Lluch, A. M., & Ribas, G. (2013) · BMC Cancer · doi:10.1186/1471-2407-13-160 · Cited by 47 · see citing works

Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae

Bartölke, R., Heinisch, J. J., Wieczorek, H., & Vitavska, O. (2014) · Biochemical Journal · doi:10.1042/bj20140572 · Cited by 44 · see citing works

Genome-wide transcriptome analysis of human epidermal melanocytes

Haltaufderhyde, K. D., & Oancea, E. (2014) · Genomics · doi:10.1016/j.ygeno.2014.09.010 · Cited by 41 · see citing works

Distribution of the F374 Allele of the <i>SLC45A2</i> (<i>MATP</i>) Gene and Founder‐Haplotype Analysis

Yuasa, I., Umetsu, K., Harihara, S., Kido, A., Miyoshi, A., Saitou, N., Dashnyam, B., Jin, F., Lucotte, G., Chattopadhyay, P. K., et al. (2006) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00261.x · Cited by 38 · see citing works

Estimating the Ages of Selection Signals from Different Epochs in Human History

Nakagome, S., Alkorta‐Aranburu, G., Amato, R., Howie, B., Peter, B. M., Hudson, R. R., & Rienzo, A. D. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv256 · Cited by 38 · see citing works

Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil

Fracasso, N. C. A., de Andrade, E. S., Wiezel, C. E. V., Andrade, C. C. F., Zanão, L. R., da Silva, M. S., Marano, L. A., Donadi, E. A., Castelli, E. C., Simões, A. L., et al. (2017) · Legal Medicine · doi:10.1016/j.legalmed.2016.12.013 · Cited by 36 · see citing works

MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids

Yuasa, I., Umetsu, K., Watanabe, G., Nakamura, H., Endoh, M., & Irizawa, Y. (2004) · International Journal of Legal Medicine · doi:10.1007/s00414-004-0490-z · Cited by 35 · see citing works

Skin Color Variation in Orang Asli Tribes of Peninsular Malaysia

Ang, K. C., Ngu, M. S., Reid, K. P., Teh, M., Aida, Z. S., Koh, D. X., Berg, A. S., Oppenheimer, S., Salleh, H., Clyde, M. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042752 · Cited by 31 · see citing works

Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes

Yuasa, I., Umetsu, K., Harihara, S., Kido, A., Miyoshi, A., Saitou, N., Dashnyam, B., Jin, F., Lucotte, G., Chattopadhyay, P. K., et al. (2007) · Biochemical Genetics · doi:10.1007/s10528-007-9095-9 · Cited by 28 · see citing works

The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population

López, S., Garcı́a, O., Yurrebaso, I., Flores, C., Acosta‐Herrera, M., Chen, H., Gardeazábal, J., Careaga, J. M., Boyano, M. D., Sánchez, A., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104367 · Cited by 25 · see citing works

Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter

Fukamachi, S., Kinoshita, M., Tsujimura, T., Shimada, A., Oda, S., Shima, A., Meyer, A., Kawamura, S., & Mitani, H. (2008) · Genetics · doi:10.1534/genetics.107.073387 · Cited by 27 · see citing works

Development of Lentigines in German and Japanese Women Correlates with Variants in the SLC45A2 Gene

Vierkötter, A., Krämer, U., Sugiri, D., Morita, A., Yamamoto, A., Kaneko, N., Matsui, M. S., & Krutmann, J. (2011) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.350 · Cited by 24 · see citing works

Medaka: a promising model animal for comparative population genomics

Matsumoto, Y., Oota, H., Asaoka, Y., Nishina, H., Watanabe, K., Bujnicki, J. M., Oda, S., Kawamura, S., & Mitani, H. (2009) · BMC Research Notes · doi:10.1186/1756-0500-2-88 · Cited by 24 · see citing works

OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean

Inagaki, K., Suzuki, T., Ito, S., Suzuki, N., Fukai, K., Horiuchi, T., Tanaka, T. P., Manabe, E., & Tomita, Y. (2005) · Pigment Cell Research · doi:10.1111/j.1600-0749.2005.00261.x · Cited by 24 · see citing works

Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?

Lezirovitz, K., Nicastro, F. S., Pardono, E., Abreu-Silva, R. S., Batissoco, A. C., Neustein, I., Spinelli, M., & Mingroni‐Netto, R. C. (2006) · Journal of Human Genetics · doi:10.1007/s10038-006-0003-7 · Cited by 23 · see citing works

Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction

Brancato, D., Coniglio, E., Bruno, F., Agostini, V., Saccone, S., & Federico, C. (2023) · Genes · doi:10.3390/genes14081604 · Cited by 22 · see citing works

Genetic differentiation among local populations of medaka fish (Oryzias latipes) evaluated through grid- and deme-based sampling

Katsumura, T., Oda, S., Mano, S., Suguro, N., Watanabe, K., Mitani, H., Oota, H., & Kawamura, S. (2009) · Gene · doi:10.1016/j.gene.2009.04.017 · Cited by 19 · see citing works

A Decreasing Gradient of 374F Allele Frequencies in the Skin Pigmentation Gene SLC45A2, from the North of West Europe to North Africa

Lucotte, G., Mercier, G., Diéterlen, F., & Yuasa, I. (2009) · Biochemical Genetics · doi:10.1007/s10528-009-9289-4 · Cited by 18 · see citing works

Distribution and expression of SLC45A2 in the skin of sheep with different coat colors

Wang, H., Xue, L., Li, Y., Zhao, B., Chen, T., Liu, Y., Chang, L., & Wang, J. (2016) · Folia Histochemica et Cytobiologica · doi:10.5603/fhc.a2016.0015 · Cited by 14 · see citing works

Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model

Reinders, A., & Ward, J. M. (2012) · Molecular Medicine Reports · doi:10.3892/mmr.2015.3462 · Cited by 13 · see citing works

Interactions between SNP Alleles at Multiple Loci and Variation in Skin Pigmentation in 122 Caucasians

Anno, S., Abe, T., Sairyo, K., Susumu, K. U. D. O., Yamamoto, T., Ogata, K., & Goel, V. K. (2007) · Evolutionary Bioinformatics · doi:10.1177/117693430700300003 · Cited by 7 · see citing works

SNPs for the analysis of human pigmentation genes—A comparative study

Zaumsegel, D., Rothschild, M. A., & Schneider, P. M. (2008) · Forensic science international. Genetics supplement series · doi:10.1016/j.fsigss.2007.11.016 · Cited by 7 · see citing works

Near Fixation of 374l Allele Frequencies of the Skin Pigmentation Gene SLC45A2 in Africa

Lucotte, G., & Yuasa, I. (2013) · Biochemical Genetics · doi:10.1007/s10528-013-9595-8 · Cited by 6 · see citing works

Prediction Model Validation: Normal Human Pigmentation Variation

Valenzuela, R. K., Ito, S., & Wakamatsu, K. (2011) · Journal of Forensic Research · doi:10.4172/2157-7145.1000139 · Cited by 5 · see citing works

Is it possible to use Forensic DNA phenotyping in Brazilian population?

Fridman, C., Cardena, M. M. S. G., Lima, F. D. A., & Gonçalves, F. D. T. (2015) · Forensic science international. Genetics supplement series · doi:10.1016/j.fsigss.2015.09.150 · Cited by 4 · see citing works

Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population

Zühlke, C., Criée, C., Gemoll, T., Schillinger, T., & Käsmann‐Kellner, B. (2007) · Pigment Cell Research · doi:10.1111/j.1600-0749.2007.00377.x · Cited by 3 · see citing works

Correction: Skin Color Variation in Orang Asli Tribes of Peninsular Malaysia

Ang, K. C., Ngu, M. S., Reid, K. P., Teh, M., Aida, Z. S., Koh, D. X., Berg, A. S., Oppenheimer, S., Salleh, H., Clyde, M. M., et al. (2012) · PLoS ONE · doi:10.1371/annotation/dfb89198-58fe-49e5-be23-325be58fedd0 · Cited by 3 · see citing works

Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe‐Based Melting Curve Analysis

Soejima, M., & Koda, Y. (2025) · Human Mutation · doi:10.1155/humu/3468799 · Cited by 2 · see citing works

DNA Polymorphisms: What They Are and Their Role in Human Pigmentation

Kosmadaki, M., Stratigos, A., Antoniou, C., & Katsambas, A. (2009) · Actas Dermo-Sifiliográficas · doi:10.1016/s0001-7310(09)73383-6 · Cited by 2 · see citing works

Molecular Regulation of Melanin Formation: Melanosome Transporter Proteins

Brilliant, M. H. (2006) · Wiley eBooks · doi:10.1002/9780470987100.ch12 · Cited by 2 · see citing works

Evolution of Skin Pigmentation Differences in Humans

Norton, H. L. (2008) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0021001 · Cited by 1 · see citing works

More genetic studies on the inference of ancestry and morphological traits: response from the authors to the letter from Salas et al.

Yuasa, I., & Umetsu, K. (2005) · International Journal of Legal Medicine · doi:10.1007/s00414-005-0033-2

Robust Identification of Local Adaptation from

Günther, T., & Coop, G. (2013)

Ethno-genetics of AIM1 gene relating to Human Skin Pigmentation among Six Indigenous Nationalities in Nepal

Singh, N. B. (2015) · Journal of Institute of Science and Technology · doi:10.3126/jist.v20i2.13959

Understanding skin color variations as an adaptation by detecting gene-environment interactions

Anno, S., Ohshima, K., & Abe, T. (2016) · doi:10.4032/9789814669641

PCB-associated steatohepatitis and the role of nuclear receptors.

Clair, H. B. (2017) · doi:10.18297/etd/2867

Diversidade genética das regiões regulatórias e codificantes dos genes SLC45A2 e TYR em amostra da população brasileira

Fracasso, N. C. A. (2018) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.17.2018.tde-31082020-111652

Predicting gene regulatory changes across human evolution using ancient DNA

Colbran, L. L. (2020)

Understanding Skin Color Variations as an Adaptation by Detecting Gene–Environment Interactions

Anno, S., Ohshima, K., & Abe, T. (2016) · Pan Stanford eBooks · doi:10.1201/b19969-2

Membrane associated transporter protein gene (SLC45A2) and the genetic basis of normal human pigmentation variation

Graf, J. (2008)

Predictive Modeling for Complex Traits: Normal Human Pigmentation Variation

Valenzuela, R. K. (2011) · UA Campus Repository (The University of Arizona)

Ethno-genetics of AIM1 gene relating to Human Skin Pigmentation among Six Indigenous Nationalities in Nepal

Singh, N. B. (2015) · Journal of Institute of Science and Technology · doi:10.3126/jist.v20i2.13959

Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans

Makova, K., & Norton, H. (2005) · Peptides · doi:10.1016/j.peptides.2004.12.032 · Cited by 101 · 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

Polygenic models for the evolution of human skin color differences.

Fb, L. (1969) · PubMed · Cited by 25 · see citing works

Molecular genetics of human pigmentation diversity. Human Mol Genet 18(R1): R9–R17

Sturm, R. A. (2009)