(c) Transfections done with constructs containing varying repeat lengths lead to size variation in the 1C2 proteins detected after transfection.
Thus, even purchasing animals from major vendors may result in cohorts with varying repeat lengths than those specified by the original vendor, especially if colonies are established in the investigators' labs and breeders are not selected for a target standard CAG repeat number.
However, diseases attributed to trinucleotide repeat expansion have runs of a single codon (polyglutamine; reviewed in [ 31]) and not a varying repeat unit, as seen with ELN.
Previous work from our group has generated libraries of DARPins of varying repeat numbers using protein engineering and recombinant DNA technology [ 18].
In the present study, highly polymorphic sequence regions consisting of indels and different numbers of tandem repeats with varying repeat units and lengths (Additional file 6) were not analyzed due largely to limitations in reliably aligning sequences.
From the evidence presented here we suggest that the process of varying repeat number within a locus is limited to duplication or deletion of motifs from within that locus during DNA replication or repair and is not due to recombination with elements present elsewhere in the genome.
Similarly, generation of constructs of varying GGC repeats proved challenging; in this study, we managed to characterize the activity of 2 variants: the wild-type (DACH1706aa), with 8 repeats, and DACH1 709aa, with 11 repeats.
Therefore, alignments of rather distant LRR domains (with low similarity between repeats and varying number of repeats) may not reflect properly their evolution.
Almqvist, E, et al. "Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease". Human Molecular Genetics, February 1995, 4 (2): 207-14.
