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Molecular basis of mouse Himalayan mutation.
B S Kwon1, R Halaban, C Chintamaneni
1Department of Microbiology & Immunology, Indiana University School of Medicine, Indianapolis 46223.
Biochemical and Biophysical Research Communications
|May 30, 1989
Summary
Himalayan mice have temperature-sensitive tyrosinase due to a genetic mutation. This study identified a specific amino acid change in tyrosinase, potentially explaining its altered stability and function in mouse coat color.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- The c-locus mutation in mice leads to various coat colors.
- Himalayan mice exhibit temperature-sensitive tyrosinase, a phenomenon lacking a clear molecular basis.
Purpose of the Study:
- To investigate the molecular basis of temperature-sensitive tyrosinase in Himalayan mice.
- To identify genetic alterations in tyrosinase responsible for the Himalayan phenotype.
Main Methods:
- Cultured Himalayan mouse melanocytes from skin.
- Constructed a cDNA library.
- Isolated and determined the nucleotide sequence of Himalayan tyrosinase cDNAs.
Main Results:
- Identified an A-to-G substitution at nucleotide 1259 in the Himalayan mouse tyrosinase gene.
- This mutation results in a histidine-to-arginine change at amino acid 420.
- The affected amino acid residue and surrounding sequence show evolutionary conservation between mouse and human tyrosinase.
Conclusions:
- The amino acid 420 alteration in Himalayan mouse tyrosinase may affect protein stability.
- This change could influence interactions with other molecules, potentially impacting tyrosinase activity and mouse coat color.