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Inactivation of Pme...
Inactivation of Pmel Alters Melanosome Shape But Has Only a Subtle Effect on Visible Pigmentation
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- Hellström, Anders R. (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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Watt, Brenda (author)
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- Fard, Shahrzad Shirazi (author)
- Uppsala universitet,Medicinsk utvecklingsbiologi
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Tenza, Daniele (author)
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- Mannström, Paula (author)
- Karolinska Institutet
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Narfström, Kristina (author)
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- Ekesten, Björn (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences
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Ito, Shosuke (author)
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Wakamatsu, Kazumasa (author)
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- Larsson, Jimmy (author)
- Uppsala universitet,Cancer och vaskulärbiologi
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- Ulfendahl, Mats (author)
- Karolinska Institutet
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- Kullander, Klas (author)
- Uppsala universitet,Genetisk utvecklingsbiologi
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Raposo, Graca (author)
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- Kerje, Susanne (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab
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- Hallböök, Finn (author)
- Uppsala universitet,Medicinsk utvecklingsbiologi
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Marks, Michael S. (author)
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- Andersson, Leif (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics
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(creator_code:org_t)
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- 2011-09-15
- 2011
- English.
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In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 7:9, s. e1002285-
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- LANTBRUKSVETENSKAPER -- Husdjursvetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Animal and Dairy Sience (hsv//eng)
- LANTBRUKSVETENSKAPER -- Veterinärmedicin (hsv//swe)
- AGRICULTURAL SCIENCES -- Veterinary Science (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Hellström, Ander ...
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Watt, Brenda
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Fard, Shahrzad S ...
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Tenza, Daniele
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Mannström, Paula
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Narfström, Krist ...
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show more...
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Ekesten, Björn
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Ito, Shosuke
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Wakamatsu, Kazum ...
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Larsson, Jimmy
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Ulfendahl, Mats
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Kullander, Klas
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Raposo, Graca
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Kerje, Susanne
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Hallböök, Finn
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Marks, Michael S ...
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Andersson, Leif
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show less...
- About the subject
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Animal and Dairy ...
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Veterinary Scien ...
- Articles in the publication
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PLoS Genetics
- By the university
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Uppsala University
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Swedish University of Agricultural Sciences
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Karolinska Institutet