| Autor: |
Khan, Shahid Y., Ahmed, Zubair M., Shabbir, Muhammad I., Kitajiri, Shin-Ichiro, Kalsoom, Saeeda, Tasneem, Saba, Shayiq, Sara, Ramesh, Arabandi, Srisailpathy, Srikumari, Khan, Shaheen N., Smith, Richard J. H., Riazuddin, Saima, Friedman, Thomas B., Riazuddin, Sheikh |
| Rok vydání: |
2007 |
| Předmět: |
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| Popis: |
Ezrin, radixin, and moesin are paralogous proteins that make up the ERM family and function as cross-linkers between integral membrane proteins and actin filaments of the cytoskeleton. In the mouse, a null allele of Rdx encoding radixin is associated with hearing loss as a result of the degeneration of inner ear hair cells as well as with hyperbilirubinemia due to hepatocyte dysfunction. Two mutant alleles of RDX [c.1732G>A (p.D578N) and c.1404_1405insG (p.A469fsX487)] segregating in two consanguineous Pakistani families are associated with neurosensory hearing loss. Both of these mutant alleles are predicted to affect the actin-binding motif of radixin. Sequence analysis of RDX in the DNA samples from the original DFNB24 family revealed a c.463C>T transition substitution that is predicted to truncate the protein in the FERM domain (F for 4.1, E for ezrin, R for radixin, and M for moesin) (p.Q155X). We also report a more complete gene and protein structure of RDX, including four additional exons and five new isoforms of RDX that are expressed in human retina and inner ear. Further, high-resolution confocal microscopy in mouse inner ear demonstrates that radixin is expressed along the length of stereocilia of hair cells from both the organ of Corti and the vestibular system. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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