AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |
Back to Blog
Usher syndrome gene reviews1/11/2024 (2003) suggested that the existence of major motifs, ankyrin repeats and a SAM domain, supported an important role for Sans in the development and maintenance of the stereocilia bundles, possibly via protein-protein interactions. Sans was shown by in situ hybridization to be highly expressed in both inner and outer hair cells of cochlea. Cochlear hair cells in the js mutants showed disorganized stereocilia bundles. Both mutations are predicted to inactivate the Sans protein by creating frameshift mutations, resulting in a truncated protein lacking the C-terminal SAM domain. They determined that the Sans gene contains insertion mutations in both js and jsseal mutant alleles. (2003) noted that 2 alleles had been identified, the original js and jsseal. The Jackson shaker (js) mouse carries a recessive mutation causing the phenotype of deafness, abnormal behavior (circling and/or head tossing) and degeneration of inner ear neuroepithelia ( Kitamura et al., 1992). The findings indicated that even a truncating mutation in the USH1G gene can result in a relatively mild phenotype. However, if the mRNA is processed, the frameshift would result in a truncated nonfunctional protein of 58 amino acids. In silico analysis predicted that retention of the first intron in the RNA resulting from the mutation would introduce a frameshift and premature termination, which could result in nonsense-mediated mRNA decay. Investigation of the effect of the mutation was hampered because RNA from patient blood did not show sufficient expression of SANS. The mutation was not found in 200 control chromosomes. (2010) identified a homozygous 15-bp deletion (163_164+13del15) involving nucleotides in the first exon and intron of the USH1G gene ( 607696.0006). In 4 affected members of a consanguineous Pakistani family with a mild form of Usher syndrome type IG, Bashir et al. In affected members of Tunisian, German, and Jordanian families segregating Usher syndrome type IG, Weil et al. Usher syndrome, type IIC, GPR98/PDZD7 digenic Usher syndrome, type 2C, GPR98/PDZD7 digenic
0 Comments
Read More
Leave a Reply. |