In addition, the crystal structures of specific mutants were solved.
Analysis of specific markers suggested that WT and FUS mutant iPSCs can be differentiated into MNs with comparable efficiency, even though it cannot be excluded that some functional impairment in iPSC-derived MNs could occur.
However, analysis of specific gene promoters shows mixed results in TET2 mutant samples, frequently exhibiting promoter-specific hypermethylation in spite of global hypomethylation (Perez et al., 2012; Wu et al., 2011; Yamazaki et al., 2012).
For a mutant with just about 80% improvement of activity, receiver-operation-curve analysis of specific activity gave area-under-the-curve close to 1.00 while the analysis of activity concentration gave smaller area-under-the-curve.
Analysis of mutants displaying specific mesodermal defects is a powerful tool with which to study the molecular basis of mesoderm specification and morphogenesis -- the more limited the scope of the mutant phenotype, the more focused the analysis of underlying molecular mechanisms that can be performed.
High-throughput resequencing analysis of selected mutants resolved specific chromosomal events, including the rearrangement junctions for a large deletion, a tandem duplication, and a translocation.
Further research on the biological relevance of the effects of Ra on plant-light-microbe interactions and the analysis of null mutants in specific pathways should provide new insights into the role of Ra in cellular defence.
Recently, functional analysis of a series of site-specific mutants, designed to mimic missense mutations found in ATP2C1, uncovered specific defects in Ca2+ and/or Mn2+ transport and protein expression in mutant hSPCA1 polypeptides.
RT-PCR analysis of the mutants using primers specific to the long isoform or both isoforms showed that dATRX2 and dATRX4 still expressed coding sequences corresponding to both isoforms, dATRX3 lacked expression of the long isoform, but maintained expression of the short isoform, and dATRX1 lacked expression of both (Figure 2B).
Thus, genetic analysis of AP2 mutants is more specific for endocytic trafficking of proteins from the cell surface.
