Article
Indication of Premelanosome Protein (PMEL) Expression Outside of Pigmented Bovine Skin Suggests Functions Beyond Eumelanogenesis.
Genes - 13 Jul 2020
Knaust Jacqueline, Weikard Rosemarie, Albrecht Elke, Brunner Ronald M, Günther Juliane, Kühn Christa
Abstract excerpt
The premelanosome protein (PMEL) is important for fibril formation within melanosomes during vertebrate melanogenesis. Fibrils form a matrix for pigment deposition within pigmented tissues such as skin and hair. PMEL mutations are known to modulate eumelanic pigmentation in vertebrates. However, in bovines, PMEL mutations were also found to alter pheomelanic pigmentation resulting in coat color dilution....
Topics
- Alleles
- Animals
- Cattle
- Gene Expression Regulation
- Humans
- Melanins
- Melanocytes
- Melanosomes
- Mutation
- Phenotype
- Skin Pigmentation
- Exome Sequencing
- gp100 Melanoma Antigen