Demonstration of altered splicing with the IVS3-1G --a mutation of cathepsin C
| Autor: | Mohamad K. Nusier, P. Suzanne Hart, Thomas C. Hart, Y Zhang, Othman M. Yassin |
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| Rok vydání: | 2002 |
| Předmět: |
Male
DNA Complementary Endocrinology Diabetes and Metabolism Mutant DNA Mutational Analysis Papillon–Lefèvre syndrome Biology Gene mutation Biochemistry Cathepsin C Frameshift mutation Exon Consanguinity Endocrinology Papillon-Lefevre Disease Genetics medicine Humans Frameshift Mutation Molecular Biology Family Health Base Sequence Alternative splicing DNA medicine.disease Molecular biology Pedigree Alternative Splicing RNA splicing Mutation Female |
| Zdroj: | Molecular genetics and metabolism. 75(3) |
| ISSN: | 1096-7192 |
| Popis: | Papillon-Lefevre syndrome is an autosomal recessive palmoplantar keratoderma caused by cathepsin C gene mutations. We present the second family segregating the IVS3-1G → A mutation and demonstrate for the first time that altered splicing and decreased enzymatic activity occur. RNA analysis revealed two species in carriers, corresponding to wild-type and mutant transcripts, and only the mutant transcript in affected individuals. Sequencing of the mutant transcript revealed that it lacked exon 3, resulting in a frameshift and introduction of a premature termination codon. |
| Databáze: | OpenAIRE |
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