Cancer is wily, and some drugs that target mutations can show benefits that soon evaporate as the tumor adapts.
Humans with PLA2G6 mutations can show progressive cognitive and motor skill regression, as displayed in disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome (Khateeb et al., 2006; Morgan et al., 2006).
Other factors including modifier genes and environment influences can also explain why individuals having the same mutation can show a varied phenotype [24].
However, some situations can lead to misinterpretations: A full mutation can show up as a diffuse smear rather than as a single enlarged band due to heterogeneous array of FMR1 alleles: such smear of expanded fragments can be very faint and easily overlooked in case of high background and/or weak signal.
Thus, markers that differ substantially in their mutation rates can show very different patterns of molecular diversity, as we found in our case.
Moreover, intrafamilial variability is not uncommon, to the extent that family members with the same causative mutation(s) can show different phenotypes.
In contrast to these predictions, the recent discovery of repeat-associated non-ATG (RAN) translation showed expansion mutations can express homopolymeric expansion proteins in all three reading frames without an AUG start codon.
However, in cases of nonclassic CF disease, specifically cases caused by class IV, V, or VI CFTR mutations [ 17– 19], patients can show normal chloride values in their sweat [ 20].
Consistent with the role of GluCl as the main target of AVMs, IVM-resistant strains of invertebrates can show mutations changing the expression levels or the peptide sequence of channel subunits [ 23, 24].
They looked at both the Y chromosome and DNA from the mitochondria, which contain patterns of mutations, known as haplogroups, that can show whether two populations descend from common ancestors.
In a similar vein, due to regulatory mutations or epigenetic changes, transcriptomes can show preferential expression of one allele and thus our model will be insensitive to instances of extensively skewed allelic expression.
