Particular emphasis has been given to microsatellites located in genes with molecular functions, and microsatellites in the V. volvacea genome have also been compared with those present in the genomes of four other edible fungi.
Alternatively, it can be argued that all three genomes MB, MTC and MTH may have possessed an initial 7 bp deletion (GGGCCGC) similar to M. canetti, giving rise to the microsatellite tract (G 5 that may have subsequently expanded to (G 6 in MB.
DNA MMR deficiency gives rise to the microsatellite instability (MSI) phenotype, which is detected as variations in lengths of DNA repeat sequences present in the genome [ 201].
Given the microsatellite evidence for a single founder mutation in our three families, it will be interesting to determine whether this variant is present at low frequencies in other geographic areas, in which case it is likely to contribute substantially to cases of triphalangeal thumb.
We scaled the t parameter for microsatellite loci using several microsatellite mutation rates, given the uncertainty in microsatellite mutation rates in the literature [ 36, 39, 64, 87].
CIMP + colorectal cancers have significantly more hypermethylation at CpG islands, including an increased incidence of CDKN2A and THBS1 methylation [129], and they are characterised by a methylated mismatch repair gene, MLH1, which gives rise to microsatellite instability [130].
As we suggested for the putative generation of telo boxes driven by the telomerase RNA template, the authors speculate that RNA guides could give rise to specific microsatellite sequences.
Given that the six microsatellite primer pairs worked for Dinornis robustus, but were designed from DNA of three different moa genera (Table 2), it was highly probable that the markers could amplify across moa taxa.
Since we already excluded the first two scenarios only the hypothesis that imperfections within microsatellites may give rise to compound microsatellites remains as the most probable explanation.
A key step in subsequent progression to cancer is genomic instability, that occurs in about 5% of adenomas, either through failing DNA mismatch repair (ca. 0.5%, corresponding to 15% of all sporadic CRCs) giving rise to the mutator phenotype marked by microsatellite instability (MSI), or (ca. 4.5%, corresponding to 85% of all sporadic CRCs) (increased levels of) chromosomal instability (CIN).
