A study using a recombinant IGD and its deletion mutants has indicated that at least 32 residues at the N-terminal side of the cleavage site (P residues of substrate) and 13 residues at the C-terminal side (P' residues) are required for aggrecanases to cleave the Glu Ala374 bond [ 56].
In addition, AtPYLs are largely functionally conserved, and the analysis of higher order mutants have indicated that AtPYLs regulate stomatal conductance (Gonzalez-Guzman et al. 2012).
Several observations on SoxB1 mouse mutants have indicated that these proteins might participate in the differentiation of select neuron subtypes (Ekonomou et al., 2005; Taranova et al., 2006; Cavallaro et al., 2008).
Analysis of the expression of protease genes in pacC mutants of A. niger has indicated the involvement of PacC in the regulation of pepA and pepB (Fraissinet-Tache et al. 1996).
The recent research of cancer has indicated that the mutant of isocitrate dehydrogenase 1 and 2 (IDH1 and 2) genes will induce various cancers [ 12, 13].
In the second case, experimental work has indicated that the mutant Δicl1Δicl2 (deletion of Rv0467 and Rv1915) of M. tuberculosis cannot survive in mice but can grow under certain in vitro conditions [ 32].
A recent research of cancer has indicated that the mutant of isocitrate dehydrogenase 1 and 2 (IDH1 and 2) genes will induce various cancers, including chondrosarcoma, cholangiocarcinomas, and acute myelogenous leukemia due to the effect of point mutations in the active-site arginine residues of isocitrate dehydrogenase (IDH), such as IDH1/R132, IDH2/R140, and IDH2/R172.
The study of mutants in CRF1 to CRF6 genes has indicated a possible role in cotyledon, leaf, and embryo development in addition to their link to cytokinin [ 10].
Recent studies of Pink1 and park mutant Drosophila have indicated that PI3K/Akt signaling or components downstream of this pathway rather exacerbates Pink1 and park mutant phenotypes (Tain et al, 2009; Liu & Lu, 2010), making it an unlikely candidate for rescue.
Although p53 antibody used in this study could not differentiate wild-type p53 from mutant p53, previous studies have indicated that p53 protein detected by immunohistochemistry seems to representative most mutant p53.
