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Characterization of Mouse Pmel 17 Gene and Silver Locus
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kwon, Byoung S. | - |
dc.contributor.author | Kim, Kack K. | - |
dc.contributor.author | Ruth Halaban | - |
dc.contributor.author | Richard T. Pickard | - |
dc.date.accessioned | 2011-10-18T07:46:58Z | - |
dc.date.available | 2011-10-18T07:46:58Z | - |
dc.date.issued | 1994-12 | - |
dc.identifier.citation | Pigment Cell Res 7:394-397 | en |
dc.identifier.issn | 1755-1471 | - |
dc.identifier.uri | https://hdl.handle.net/10371/74290 | - |
dc.description.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. | en |
dc.description.sponsorship | This work was supported by grants from the National Institutes of Health R01 AR-4028 (BK) and ROl-AR39848 (RH) and the March of Dimes Birth Defects Foundation (BK). | en |
dc.language.iso | en | en |
dc.publisher | Blackwell Publishing | en |
dc.subject | Silver locus | en |
dc.subject | Insertional mutation | en |
dc.subject | Murine Pmel 17 | en |
dc.title | Characterization of Mouse Pmel 17 Gene and Silver Locus | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 김각균 | - |
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