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Characterization of Mouse Pmel 17 Gene and Silver Locus
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- Authors
- Issue Date
- 1994-12
- Publisher
- Blackwell Publishing
- Citation
- Pigment Cell Res 7:394-397
- Keywords
- Silver locus ; Insertional mutation ; Murine Pmel 17
- Abstract
- Pmel 17 cDNA clones, isolated from wild-type and si/si murine melanocytes, were sequenced and compared. A single nucleotide (A) insertion was found in the putative cytoplasmic tail of the si/si Pmel 17 cDNA clone. This insertion is predicted to alter the last 24 amino acids at the C-terminus and to extend the Pmel 17 protein by 12 residues. The mutation was confirmed by the sequence of the PCR-amplified genomic region including the mutation site. Silver Pmel 17 was not recognized by antibodies directed toward the C-terminal amino acids of wild-type Pmel 17, indicating a defect in this region. These results indicate that silver Pmel 17 protein has a major defect at the carboxyl terminus.
- ISSN
- 1755-1471
- Language
- English
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