VAPB mutations, even the SMA-FK-associated p.P56S mutation, also cause other motor neuron phenotypes, particularly typical and atypical ALS (Nishimura et al., 2005; Chen et al., 2010; Funke et al., 2010; Kosac et al., 2013).
For spr0897 and spr1443 the mutations even targeted the same amino acid as in the R6-SOCPR mutant, leading to a different substitution in the case of spr0897 (Table 5).
If different changes have occurred in the nucleotide sequence of the gene responsible for pale seeds in the different species, then lack of complementation in the F1 of a cross between two pale-seeded species does not prove identity of the underlying mutations even though the mutations are in the same gene.
Because the proportions of C>T at dipyrimidine context are the same (chi-square test p=0.54) between melanomas and breast cancers, it is highly unlikely that the UV signature generates the mtDNA mutations even in the melanoma samples.
Non-indexed pooling could be particularly useful for the controls, since variants present in the normal population are not believed to be cancer mutations, even if the presence of the variant in a matched normal sample has not been confirmed.
To circumvent the need for a reference genome, Nordström et al. [ 39] introduced the algorithm NIKS (needle in the k-stack), allowing identification of mutations even in the absence of a reference sequence after backcrossing to the WT and sequencing of pooled F2 progeny.
In this way, the proper functioning of Hsp90, and other chaperones, may buffer phenotypic expression of mutations even if the chaperones do not physically interact with the mutated proteins.
For some diseases, the precise disease causing mutations, even within the same gene, can also differ from family to family, and this is referred to as allelic heterogeneity.
Of note, the dominant Sμ sequence in IgV-Mut #3 harbored five mutations even though the germ line Sμ sequence was still detectable within the subclones.
The case of 579C>G (m.1226C>G) constitutes yet another example of the fact that Cis cannot be used to predict the disruptive potential of rRNA mutations even in the heterologous systems used as references in these studies.
From this meiosis-I time onwards, the mtDNA would have started to accumulate mutations even in the resting nondividing oocyte, since circular mtDNA as opposed to nucleair DNA lacks protection by histones or DNA repair (Attardi, 1981; Borst, 1981; Wallace, 1989).
