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Characterization of Mouse Pmel 17 Gene and Silver Locus

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Authors
Kwon, Byoung S.; Kim, Kack K.; Ruth Halaban; Richard T. Pickard
Issue Date
1994-12
Publisher
Blackwell Publishing
Citation
Pigment Cell Res 7:394-397
Keywords
Silver locusInsertional mutationMurine 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
URI
http://hdl.handle.net/10371/74290
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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