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Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pmel 17.

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.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Kwon BS,Halaban R,Ponnazhagan S,Kim K,Chintamaneni C,Bennett D,Pickard RT

doi

10.1093/nar/23.1.154

subject

Has Abstract

pub_date

1995-01-11 00:00:00

pages

154-8

issue

1

eissn

0305-1048

issn

1362-4962

journal_volume

23

pub_type

杂志文章

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