How PMEL Mutations Affect Pigmentation
Author Information
Author(s): Brenda Watt, Danièle Tenza, Mark A. Lemmon, Susanne Kerje, Graça Raposo, Leif Andersson, Michael S. Marks
Primary Institution: University of Pennsylvania
Hypothesis
The TMinsWAP and TMR625C mutations of PMEL in the DW chicken and the Silver horse alter the cellular or biophysical properties of PMEL to convert functional amyloid into a pathological form.
Conclusion
Mutations in PMEL can change its structure from a functional to a pathogenic form, leading to impaired pigmentation in melanocytes.
Supporting Evidence
- The study shows that PMEL mutations can lead to severe pigment loss in certain animals.
- Secondary mutations can revert the effects of primary pathogenic mutations.
- The research indicates that the structure of PMEL fibrils is crucial for melanin production.
Takeaway
Some changes in a protein can make it harmful instead of helpful, which can stop animals from getting their normal color.
Methodology
The study involved genetic analysis and experiments in cultured melanocytes to assess the effects of PMEL mutations on pigmentation.
Limitations
The study primarily focused on specific mutations and may not account for all genetic variations affecting pigmentation.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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