title: Characterization of mouse Pmel 17 gene and silver locus.
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.
authors.affiliation: Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis 46202-5120.
authors.forename: B S
authors.initials: BS
authors.lastname: Kwon
authors.forename: K K
authors.initials: KK
authors.lastname: Kim
authors.forename: R
authors.initials: R
authors.lastname: Halaban
authors.forename: R T
authors.initials: RT
authors.lastname: Pickard
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D016923:Cell Death; D005796:Genes; D006197:Hair / Q000473:pathology; D006200:Hair Color / Q000235:genetics*; D008562:Membrane Glycoproteins; D051379:Mice / Q000235:genetics*; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D011506:Proteins / Q000235:genetics* / Q000276:immunology; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D058951:gp100 Melanoma Antigen
chemical_list: D008562:Membrane Glycoproteins; C548642:Pmel protein, mouse; D011506:Proteins; D058951:gp100 Melanoma Antigen