The underwhite (uw) locus acts autonomously and reduces the production of melanin
Open accessAbstract
The mouse has provided several significant models for hypopigmentation disorders, including the major forms of albinism. Mutations at the mouse underwhite locus confer one of the most severe hypopigmentation phenotypes, similar to mutations at the pink-eyed dilution locus that is a model for type 2 oculocutaneous albinism. A melanocyte cell line established from underwhite mutant mice failed to pigment under conditions that support pigment production in wild-type melanocytes and melanoblasts from underwhite skin graft transplants failed to produce melanin in normal skin, demonstrating that the action of the gene encoded by the underwhite locus is intrinsic to melanocytes. Mice with mutations at the underwhite locus and either the pink-eyed dilution locus or the melanocortin receptor 1 locus exhibited more severe hypopigmentation than either mutation alone, suggesting that the actions of these genes are independent. These results demonstrate that the underwhite locus is a major determinant of mammalian pigmentation.
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Combinatorial effects are observed in mouse models when double-mutant homozygous mice are compared to mice harboring homozygous mutations in either gene alone.
“Combinatorial effects are also observed in mouse models, when mutant melanogenic gene alleles being considered in double-mutant homozygous mice are compared to mice harboring homozygous mutations in either gene alone (Prota et al., 1995;Lehman et al., 2000).”
From Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci (2009) · cites this paper as Lehman et al., 2000
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- Authors
- Lehman, A. L., Silvers, W. K., Puri, N., Wakamatsu, K., Ito, S., & Brilliant, M. H.
- Affiliations
- University of Pennsylvania (US)
- Boston University (US)
- Fujita Health University (JP)
- University of Arizona (US)
- Corresponding author
- Brilliant, Murray H.
- Venue
- Journal of Investigative Dermatology
- Publisher
- Elsevier BV
- Published
- 2000-10
- Volume
- 115
- Issue
- 4
- Pages
- 601-606
- ISSN
- 0022-202X (ISSN-L)
- OpenAlex
- W1988934712
- Cited by
- 42
- References
- 32
- Citations by year
- 2024: 1 · 2023: 1 · 2020: 1 · 2018: 1 · 2017: 2 · 2016: 1 · 2014: 2 · 2013: 3 · 2012: 1
- FWCI
- 1.42
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of Investigative Dermatology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01ar045496-04)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01 AR45496)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- hypopigmentation, melanogenesis, melanocytes, melanocortin receptor 1, skin grafting
- MeSH terms
- Animals, Carrier Proteins, Cell Line, Hair, Melanins, Melanocytes, Membrane Proteins, Mice, Inbred C57BL, Mice, Mutant Strains, Mutation, Phenotype, Pigmentation Disorders, Receptors, Corticotropin, Receptors, Melanocortin, Mice
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