Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F
| Autor: | Zubair M. Ahmed, Andrew J. Griffith, Saima Riazuddin, Sheikh Riazuddin, Zahoor Ahmed, Edward R. Wilcox, S. L. Bernstein, Robert J. Morell, Thomas B. Friedman, Shaheen N. Khan |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Male
MYO7A Usher syndrome DNA Mutational Analysis Cadherin Related Proteins Protocadherin Deafness Biology medicine.disease_cause Retina Mice CDH23 Retinitis pigmentosa otorhinolaryngologic diseases Genetics medicine Animals Humans Pakistan Genetics(clinical) RNA Messenger Protein Precursors Alleles Genetics (clinical) Aged Mutation Base Sequence Chromosomes Human Pair 10 Usher Syndrome Type 1 Articles Syndrome Middle Aged Cadherins Physical Chromosome Mapping medicine.disease Mice Mutant Strains Pedigree Protein Structure Tertiary Phenotype Haplotypes Female Lod Score Retinitis Pigmentosa PCDH15 |
| Zdroj: | The American Journal of Human Genetics. 69:25-34 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/321277 |
| Popis: | Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|