These mutations caused aberrant CD63 accumulation within the cytosol (p.T104N: Figure 6 I J; p.I29V & p.Q206H: data not shown).
A decade ago, one of the pioneering studies on LGR5 in cancer reported the overexpression of LGR5 in hepatocellular carcinomas, pointing out the correlation with β-catenin mutations causing aberrant activation of the canonical Wnt pathway.
From our data, we speculate that our identified hip3-1 mutation causes aberrant chromatin organization which triggers disruption of chromatin structure.
The mutation, named lde for lethal dwarfism with epilepsy, was identified as a 13-bp deletion in Exon 9 of the Wwox gene resulting in a frame shift mutation causing aberrant amino acid sequences (371 424aa) at the C-terminal of the Wwox protein.
Detailed analysis of individual endocytic patch behavior indicates that the mutation causes aberrant movements in later stages of endocytosis, consistent with a scission defect.
We conclude that splice site mutations that cause aberrant splicing of MLH1 do not alone significantly affect local nucleosome positioning in LCLs from Lynch syndrome patients.
Despite the fact that introns typically make up more than 90% of the sequence of a gene, the vast majority of reported mutations that cause aberrant splicing without directly affecting the splice sites are located in exons [ Buratti et al., 2006; Cartegni et al., 2002; Wang and Cooper, 2007].
It has also been hypothesized that an initial genetic mutation may cause aberrant behaviour of a subpopulation of endometrial stem cells; clonal expansion of such cells may then occur and result in development of endometriosis (Gargett et al., 2009).
We established the previously unrecognized pathogenicity of these mutations, which caused aberrant splicing, most frequently by the activation of cryptic splicing sites or, occasionally, by exon skipping.
Furthermore, we show that mutations in unc-51 cause aberrant overshooting of dendrites in the mushroom body and the antennal lobe.
