General characteristics of the melanogenesis process with particular emphasis on the role of the PAX3 gene

• Main Authors: Bińkowski Jan, Kmieć Marek, Kubiś Jakub
• Format: Article
• Language: English
• Published: Serbian Genetics Society 2018-01-01
• Series: Genetika
• Subjects: Pax3; melanogenesis; melanocytes; melanoblast; coat color
• Online Access: http://www.doiserbia.nb.rs/img/doi/0534-0012/2018/0534-00121803111B.pdf

Melanogenesis is a dynamic process of biological transformations leading to the formation of copolymeric dyes - melanins, which act as a protector against the ultraviolet radiation (UV) and reactive oxygen species (ROS). The process of these compounds formation is carried out by an enzymatic apparatus in specialized melanocyte organelles - melanosomes. Particularly from the point of view of biochemistry, melanins synthesis occurring depend to a large extent not only on genetic but also on environmental conditions. Pax3 is an important candidate in research on genetic conditioning of animal colors pattern due to the fact that his gene expression product is a highly conserved transcription factor that during embryonic development is one of the elements responsible for regulating stem cell differentiation of the neural crest into melanocytes. Moreover during individual life Pax3 is involved in the response of melanocytic units to UV radiation. Mutations/polymorphisms of the Pax3 gene are the cause of the occurrence of some color varieties, as well as developmental disorders.