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Altered retinoid distribution in the repeated epilation (Er) mutant mouse
Journal of Craniofacial Genetics and Developmental Biology
|April 1, 1992
Summary
The repeated epilation (Er) mutation in mice disrupts hair growth and development by altering retinoid distribution. This genetic defect leads to abnormal vitamin A levels, impacting epithelial differentiation and causing distinct phenotypes in heterozygotes and homozygotes.
Area of Science:
- Genetics
- Developmental Biology
- Biochemistry
Background:
- The repeated epilation (Er) mutation in mice affects hair regrowth and embryonic development.
- Er mutant phenotypes resemble those induced by excess retinoids, which are crucial for epithelial differentiation.
Purpose of the Study:
- To investigate if the Er mutation alters systemic retinoid levels.
- To explore the association between retinoid distribution and altered epithelial differentiation in Er mutants.
Main Methods:
- Quantification of retinoic acid, retinol, and retinyl palmitate in various tissues of normal, heterozygous (Er/+), and homozygous (Er/Er) mice.
- Immunoblotting to determine retinol binding protein (RBP) levels in plasma and liver microsomes.
- Immunohistochemical staining of hair follicles for RBP.
Main Results:
- Adult Er/+ mice exhibited elevated liver retinoic acid and retinol, with increased retinyl palmitate in skin and kidney, but decreased plasma retinol.
- Newborn Er/Er mice showed reduced liver retinoids but elevated extrahepatic retinyl palmitate.
- RBP levels were similar across genotypes, but RBP staining was observed in Er/+ hair follicles, suggesting altered retinoid transport.
Conclusions:
- Altered retinoid distribution is strongly associated with the Er mutation.
- Changes in retinoid levels and distribution likely underlie the observed defects in epithelial differentiation in Er mutants.