(C ) Tubes formed by a pilA mutant cell observed by TEM is shown for comparison.
The background or spontaneous HPRT MF (mutants per 10 cells) observed in control cells was 0.35 ± 0.24. Figure 3B shows the averaged results of 5 independent experiments relating laser power levels to the observed mutation frequency.
In hpo mutant cells, we observed dramatic accumulations of Hrs, as well as significant colocalization of Hrs with NICD (Fig. 5E) in the subapical region.
In photoreceptors, reductions in Rab11 or Sec6 function do not eliminate polarized cell architecture, but this may be due to perdurance of wild-type protein, as only small clones of mutant cells were observed.
Both basal and apical expulsion of mutant cells was observed, the former characterized by specific reorganization of cell adhesion and polarity proteins, the latter by complete cytoplasmic diffusion of these proteins.
While in this study rapamycin was administered only to the mutant cells, we observed a previously unrecognized downregulation of V-ATPase expression by rapamycin (Supplementary Figure S2).
DOI: http://dx.doi.org/10.7554/eLife.06306.011 Because the synthesis of many membrane proteins was affected in dPob mutant cells, we observed the phenotype of dPob mutant throughout the developmental processes of photoreceptors.
Another revealing result was that in chimeras containing a high contribution of mutant cells, we observed expanded Ascl1 domains immediately caudal to the expanded Pax6 −/− ZLI (i.e., corresponding to expanded pTh-R) that comprised wild-type cells, providing clear evidence for a non-cell-autonomous upregulation of Ascl1 and loss of Ngn2 around the expanded mutant ZLI.
Sortilin mRNA levels cells were found nearly three-fold lower in p.G171A mutation carriers than in noncarriers (p < .0001; Figure 3(a)), and a similar decrease of two-fold between wild-type and mutant cells was observed at the protein level (p < .05; Figure 3(b)).
Disruption to cell proliferation in supporting cell precursors might arguably cause a reduction in the number of SRY-positive cells observed in mutant gonads, causing reduced Sry expression.
