ArticlePLoS genetics2011
Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
76 citing papers in PubMed, 143 citations in OpenAlex.
- From Monomers to Aggregates: The Influence of Redox State and Structure on the First Excited States of Eumelanin and Pheomelanin.International journal of molecular sciences · 2026Article
- Ultrarapid MC1R protein and associated plumage color evolution in the domestic chicken.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Genome Scanning Reveals the Genetic Basis of a Color Pattern Morphotype in an Island Population of the European Adder (Vipera berus).Genome biology and evolution · 2026Article
- STIM1-Mitofusin2 interactions tether mitochondria and melanosome contacts that promote melanosome maturation.Nature communications · 2026Article
- Pmel17 Deficiency Affects Melanogenesis and Promotes Tumor Vascularization.International journal of molecular sciences · 2026Article
- Atomic structure and in situ visualization of native PMEL lamellae in melanosomes.Nature communications · 2025Article
- Article
- High melanosome diversity exhibits weak correlation with color and environmental variables in the early evolution of therian mammals.Science advances · 2025Article
- Visceral Peritoneum Hyperpigmentation in Chickens Is Associated withAnimals : an open access journal from MDPI · 2025Article
- Reprogramming of endolysosomes for melanogenesis in BLOC-1-deficient melanocytes.Current biology : CB · 2025Article
- Cryo-EM of wild-type and mutant PMEL amyloid cores reveals structural mechanism of pigment dispersion syndrome.Nature communications · 2025Article
- Identification and Expression Patterns of Critical Genes Related to Coat Color in Cashmere Goats.Genes · 2025Article
- Functions of thyroid hormone signaling in regulating melanophore, iridophore, erythrophore, and pigment pattern formation in spotted scat (Scatophagus argus).BMC genomics · 2025Article
- Caerin 1.1 and 1.9 peptides halt B16 melanoma metastatic tumours via expanding cDC1 and reprogramming tumour macrophages.Journal of translational medicine · 2024Article
- Transcriptome-based screening and validation of key genes for wool color in cashmere goats.Genes & genomics · 2024Article
- Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery.BMC genomics · 2024Article
- Melanocytes in regenerative medicine applications and disease modeling.Journal of translational medicine · 2024Review
- Taking a color photo: A homozygous 25-bp deletion inProceedings of the National Academy of Sciences of the United States of America · 2024Article
- The biochemistry of melanogenesis: an insight into the function and mechanism of melanogenesis-related proteins.Frontiers in molecular biosciences · 2024Review
- Article
16 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 7 institutions in 4 countries.
Funding
Abstract
PMEL is an amyloidogenic protein that appears to be exclusively expressed in pigment cells and forms intralumenal fibrils within early stage melanosomes upon which eumelanins deposit in later stages. PMEL is well conserved among vertebrates, and allelic variants in several species are associated with reduced levels of eumelanin in epidermal tissues. However, in most of these cases it is not clear whether the allelic variants reflect gain-of-function or loss-of-function, and no complete PMEL loss-of-function has been reported in a mammal. Here, we have created a mouse line in which the Pmel gene has been inactivated (Pmel⁻/⁻). These mice are fully viable, fertile, and display no obvious developmental defects. Melanosomes within Pmel⁻/⁻ melanocytes are spherical in contrast to the oblong shape present in wild-type animals. This feature was documented in primary cultures of skin-derived melanocytes as well as in retinal pigment epithelium cells and in uveal melanocytes. Inactivation of Pmel has only a mild effect on the coat color phenotype in four different genetic backgrounds, with the clearest effect in mice also carrying the brown/Tyrp1 mutation. This phenotype, which is similar to that observed with the spontaneous silver mutation in mice, strongly suggests that other previously described alleles in vertebrates with more striking effects on pigmentation are dominant-negative mutations. Despite a mild effect on visible pigmentation, inactivation of Pmel led to a substantial reduction in eumelanin content in hair, which demonstrates that PMEL has a critical role for maintaining efficient epidermal pigmentation.
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