| First Author | Kwon BS | Year | 1994 |
| Journal | Pigment Cell Res | Volume | 7 |
| Issue | 6 | Pages | 394-7 |
| PubMed ID | 7761347 | Mgi Jnum | J:23043 |
| Mgi Id | MGI:70767 | Doi | 10.1111/j.1600-0749.1994.tb00067.x |
| Citation | Kwon BS, et al. (1994) Characterization of mouse Pmel 17 gene and silver locus. Pigment Cell Res 7(6):394-7 |
| abstractText | 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. |
