International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 168 - ANALYSIS OF THE GENOMIC STRUCTURE OF PROTOCADHERIN 15, THE GENE ASSOCIATED WITH THE MOUSE AMES WALTZER AND HUMAN USHER SYNDROME TYPE 1F (USH1F)

Mr. Nathaniel D. Miller
Miami University
635 Karlson Dr
Mansfield
OH 44904
USA

Co- Authors: 1)Yuan H, 1)Smith R JH, 2)Alagramam K
Institutions: 1)Molecular Otolaryngology Research Lab, Dept. Otolaryngology, University of Iowa, 2)Dept. of Pediatric Otolaryngology, University Hospitals of Cleveland, Case Western Reserve University

The mouse Ames waltzer (av) is a recessive mutation, which causes inner ear dysfunction associated with degeneration of the neuroepithelia. The gene that harbors the av mutation was identified to be a protocadherin, Pcdh15. Mutations in the human homologue of Pcdh15 were identified in two USH1F families. The av mouse is an excellent model for studying mutations in the human gene responsible for USH1F and understanding the function of Pcdh15 genes in both species. Here we report the ongoing analysis of intron-exon structure and the genomic sequence of the mouse and human Pcdh15 genes. They both have 32 exons with high homology in exons 2-31, which codes for the extracellular (EC) domain of the encoded protein. The human gene spans ~700 Kb region on chromosome 10q21.1; the mouse gene is expected to be of similar size. The 5-UTR region of PCDH15 shows key features such as the presence of CpG islands upstream of the putative transcription start site. Compared to other protocadherins, Pcdh15 has a unique genomic structure with one large exon encoding the cytoplasmic domain and 30 exons encoding the EC domain. Based on the analysis we have done so far it appears that the genomic structures of the mouse and human Pcdh15 genes are highly conserved and it is likely that they are derived from a common ancestral gene.


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