Inactivation of Pmel Alters Melanosome Shape But Has Only a Subtle Effect on Visible Pigmentation
2011

Effects of Pmel Gene Inactivation on Melanosome Shape and Pigmentation in Mice

publication Evidence: moderate

Author Information

Author(s): 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

Primary Institution: Uppsala University

Hypothesis

What is the role of the PMEL gene in melanosome shape and pigmentation in mice?

Conclusion

Inactivation of the PMEL gene alters the shape of melanosomes but has only a mild effect on visible pigmentation.

Supporting Evidence

  • PMEL is essential for the normal development of rod-shaped melanosomes in eumelanin-producing melanocytes.
  • Loss of PMEL expression leads to spherical melanosomes and a significant reduction in eumelanin content in hair.
  • Despite changes in melanosome shape, visual function in PMEL knockout mice is not severely impaired.

Takeaway

Scientists created mice without the PMEL gene to see how it affects their fur color and the shape of their pigment cells. They found that the mice's pigment cells changed shape but their fur color didn't change much.

Methodology

The study involved creating a PMEL knockout mouse line and analyzing the morphology of melanosomes in skin and eye tissues using electron microscopy.

Limitations

The study's sample size for certain analyses was small, which may limit the generalizability of the findings.

Statistical Information

P-Value

p<10−6

Statistical Significance

p<10−6

Digital Object Identifier (DOI)

10.1371/journal.pgen.1002285

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