International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


POSTER 101 - MUTATIONS IN A NEW SCAFFOLD PROTEIN SANS CAUSE DEAFNESS IN JACKSON SHAKER MICE

Y.K. Kikkawa
The Tokyo Metropolitan Institute of Medical Science

1) Shitara H, 2) Wakana S, 3) Tokano H, 3) Kitamura K, 2), 4) Shiroishi T, 5) Kominami R & 1) Yonekawa Y
1) The Tokyo Metropolitan Institute of Medical Science, 2) RIKEN Gemome Science Center, 3) Tokyo Medical and Dental University, 4) National Institute of Genetics, 5) Niigata Graduate School of Medicine & Dental

The Jackson shaker (js) mouse carries a recessive mutation causing phenotypes such as deafness, abnormal behavior (circling and/or head-tossing) and degeneration of inner ear neuroepithelia.  Two alleles have been identified so far, the original js and jsseal.  A contig of three BAC clones was isolated by positional cloning, two of which rescue the js phenotype by BAC transgenesis. Analysis of transcripts in an overlapping region of the two clones revealed a gene encoding a new scaffold-like protein Sans (Scaffold protein containing Ankyrin repeats and SAM domain)that showed mutations in the two js mutants. One was a guanine nucleotide insertion in the original js allele and the other a 7-base insertion in the jsseal allele.  Both insertions are predicted to inactivate the Sans protein by frameshift mutations resulting in a truncated protein lacking the C-terminal SAM domain.  Sans was highly expressed in inner and outer hair cells of cochlea, where abnormalities are found in js mice. The existence of major motifs, ankyrin repeats and a SAM domain, suggests that the Sans protein mediates protein-protein interaction with cytoskeletal structures that may be involved in signal transduction in the cochlear hair cells.


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