Nucleic Acids Research, 1995, Vol. 23, No. 1 154-158
© 1995
MOLECULAR BIOLOGY |
Mouse silver. mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17
Department of Microbiology and Immunology, Indiana University School of Medicine 635 Barnhill Drive, Indianapolis, IN 46202, USA 1Department of Anatomy, St Georges Hospital, University of London London SW17 ORE, UK 2Department of Dermatology, Yale University School of Medicine 333 Cedar Street, New Haven, CT 06510, USA
*To whom correspondence should be addressed
Received September 7, 1994. Revised November 22, 1994. Accepted November 22, 1994.
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 sUsi 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 silverpmel 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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