Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17.
In: Nucleic acids research, Jg. 23 (1995-01-11), Heft 1, S. 154-8
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Zugriff:
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.
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Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17.
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Autor/in / Beteiligte Person: | Kwon, BS ; Halaban, R ; Ponnazhagan, S ; Kim, K ; Chintamaneni, C ; Bennett, D ; Pickard, RT |
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Zeitschrift: | Nucleic acids research, Jg. 23 (1995-01-11), Heft 1, S. 154-8 |
Veröffentlichung: | 1992- : Oxford : Oxford University Press ; <i>Original Publication</i>: London, Information Retrieval ltd., 1995 |
Medientyp: | academicJournal |
ISSN: | 0305-1048 (print) |
DOI: | 10.1093/nar/23.1.154 |
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