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Publication : A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes.

First Author  Hirobe T Year  2012
Journal  Zoolog Sci Volume  29
Issue  10 Pages  652-61
PubMed ID  23030338 Mgi Jnum  J:336411
Mgi Id  MGI:7489661 Doi  10.2108/zsj.29.652
Citation  Hirobe T, et al. (2012) A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes. Zoolog Sci 29(10):652-61
abstractText  We previously demonstrated that a novel mutation, characterized by light-colored coats and ruby eyes, which occurred spontaneously in mice in our laboratory, exhibited deletion in the Hps5 gene (ru2(d)/Hps5(ru2-d)). To clarify the mechanism of this hypopigmentation, the characteristics of the neonatal development of ru2(d)/ru2(d) melanocytes were investigated in detail with special reference to those of +/+ melanocytes. In ru2(d)/ru2(d) mice, there were fewer epidermal melanocytes than in +/+ mice, whereas there was no difference in numbers of epidermal melanoblasts in +/+ and ru2(d)/ru2(d)mice, both in dorsal and ventral skin. Epidermal melanocytes with increased dopa-melanin deposition and dendritogenesis were greatly increased by injecting L-Tyr subcutaneously into newborn ru2(d)/ru2(d) mice. The eumelanin content in the epidermis and dermis in postnatal ru2(d)/ru2(d) mice was much lower than in +/+ mice, whereas similar pheomelanin content was observed 5.5 or 7.5 days after birth both in dorsal and ventral skins. Moreover, the eumelanin content in the dorsal and ventral hairs in 5-week-old ru2(d)/ru2(d) mice was much lower than in +/+ mice, whereas pheomelanin content was two to four times greater than in +/+ mice. These results suggest that the ru2(d) allele suppresses the differentiation of melanocytes through the inhibition of eumelanin synthesis, but stimulates pheomelanin synthesis in melanocytes.
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