Mutations in the novel protocadherin **PCDH15** cause Usher syndrome type 1F
| Autor: | K N, Alagramam, H, Yuan, M H, Kuehn, C L, Murcia, S, Wayne, C R, Srisailpathy, R B, Lowry, R, Knaus, L, Van Laer, F P, Bernier, S, Schwartz, C, Lee, C C, Morton, R F, Mullins, A, Ramesh, G, Van Camp, G S, Hageman, R P, Woychik, R J, Smith, G S, Hagemen |
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| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male animal structures Genetic Linkage Usher syndrome Blotting Western DNA Mutational Analysis Molecular Sequence Data Nonsense mutation Cadherin Related Proteins Protocadherin Deafness Biology Retina Mice Exon Fetus CDH23 otorhinolaryngologic diseases Genetics medicine Animals Humans Amino Acid Sequence Protein Precursors Molecular Biology In Situ Hybridization Fluorescence Polymorphism Single-Stranded Conformational Genetics (clinical) Sequence Homology Amino Acid medicine.diagnostic_test Reverse Transcriptase Polymerase Chain Reaction Gene Expression Profiling Usher Syndrome Type 1 Syndrome General Medicine Blotting Northern Cadherins medicine.disease Molecular biology Cochlea Pedigree Mutation Female PCDH15 Fluorescence in situ hybridization |
| Zdroj: | Human molecular genetics |
| ISSN: | 0964-6906 |
| Popis: | We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus. We determined the genomic structure of this novel protocadherin, and found a single-base deletion in exon 10 in one USH1F family and a nonsense mutation in exon 2 in the second. Consistent with the phenotypes observed in these families, we demonstrated expression of PCDH15 in the retina and cochlea by RT-PCR and immunohistochemistry. This report shows that protocadherins are essential for maintenance of normal retinal and cochlear function. |
| Databáze: | OpenAIRE |
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