Using gene targeting to engineer a single-amino-acid mutation, we show that the Dnmt3L histone H3 binding domain (ADD) is necessary for spermatogenesis.
Neighbor-joining, minimum evolution, and maximum parsimony methods produced broadly concordant tree topologies, as did different models of nucleotide mutation (we show neighbor-joining trees based on pairwise distances calculated with the Tamura 3-parameter model and a gamma distribution coefficient of 5.0 [ 26]).
In the analysis of cooccurring pairs of genomic mutation we showed that HCV immune escape dynamics are characterized by the existence of potential compensatory mutations, which characterize the HCV viral populations, thus suggesting that a strong adaptation mechanism is at play.
Based on the genotypes of 630 French Trotters at a SNP associated with the DMRT3 mutation, we showed that all traits associated with racing were negatively affected in homozygous CC horses but that this was not the case for heterozygous CT horses (with genotype CA at the DMRT3 gene).
Using human neurons generated from control and FXS patient-derived induced pluripotent stem (iPS) cells or from embryonic stem cells carrying conditional FMR1 mutations, we show here that loss of FMR1 function specifically abolished homeostatic synaptic plasticity without affecting basal synaptic transmission.
Thus by examining extra, non-founder mutations in close proximity to the founder mutations we show that this method easily detects missense mutations as well as small insertions and deletions.
Using ife-3 gene mutations, we show here that it is maternal ife-3 function that is essential for embryogenesis, but ife-3 null progeny of heterozygous animals are viable.
By assessing performance on both known and novel disease mutations, we show that OVA performs biologically meaningful candidate variant prioritization and can be more accurate than another recently published candidate variant prioritization tool.
Using a Pen-2 knockout mouse embryonic fibroblast cell line rescued with Pen-2 constructs containing single missense mutations, we show that Pen-2 is intimately linked with both γ-secretase maturation and activity.
Regarding KRAS mutations we show that these mutations occur in cases of hyperplasic polyps and in hyperplastic polyps with some areas of dysplasia in accordance to the recent reports of Wynter [ 12] and O'Brien [ 13] showing that KRAS mutations occur in pre-malignant lesions of the colorectum other than pure adenomas.
For biologically plausible rates of mutations we show that, in bacteria, TAG stop codon is universally associated with lower fitness, with TAA being the optimal for G-content < 16% while for G-content > 16% TGA has a higher fitness than TAG.
