Article
Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.
PLoS genetics - 1 Sept 2011
Hellström Anders R, Watt Brenda, Fard Shahrzad Shirazi, Tenza Danièle, Mannström Paula, Narfström Kristina, Ekesten Björn, Ito Shosuke, Wakamatsu Kazumasa, Larsson Jimmy, Ulfendahl Mats, Kullander Klas, Raposo Graça, Kerje Susanne, Hallböök Finn, Marks Michael S, Andersson Leif
Abstract excerpt
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...
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