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Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kwon, Byoung S. | - |
dc.contributor.author | Ruth Halaban | - |
dc.contributor.author | Selvarangan Ponnazhagan | - |
dc.contributor.author | Kim, Kack K | - |
dc.contributor.author | Chaya Chintamaneni | - |
dc.contributor.author | Dorothy Bennett | - |
dc.contributor.author | Richard T. Pickard | - |
dc.date.accessioned | 2011-10-18T07:40:09Z | - |
dc.date.available | 2011-10-18T07:40:09Z | - |
dc.date.issued | 1995-01 | - |
dc.identifier.citation | Nucleic Acids Res. 23,154–158 | en |
dc.identifier.issn | 1362-4962 | - |
dc.identifier.uri | https://hdl.handle.net/10371/74289 | - |
dc.description.abstract | This laboratory has established in previous studies that Pmel 17, a gene expressed specifically in melanocytes, maps near the silver coat color locus (si/si) on mouse chromosome 10. In the current study, we have focused on determining whether or not the si allele carries a mutation in Pmel 17. Pmel 17 cDNA clones, isolated from wild-type and si/si murine melanocyte cDNA libraries, 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. Also predicted is the extension of the Pmel 17 protein by 12 residues because a new termination signal created downstream from the wild-type reading frame. The mutation was confirmed by the sequence of the PCR-amplified genomic region flanking and including the mutation site. The fact that si/si Pmel 17 was not recognized by antibodies directed toward the C-terminal 15 amino acids of wild-type Pmel 17, indicated a defect in this region. We conclude from these results that silver pmel 17 protein has a major defect at the carboxyl terminus. The chromosomal location and the identification of a potentially pathologic mutation in si-Pmel 17 support our conclusion that Pmel 17 is encoded at the silver locus. | en |
dc.description.sponsorship | This work was supported by grants from the
National Institutes of Health ROl AR-4028 (BK) and RO1-AR39848 (RH) and the March of Dimes Birth Defects Foundation (BK). | en |
dc.language.iso | en | en |
dc.publisher | Oxford University Press | en |
dc.title | Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17 | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 김각균 | - |
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