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Reduced fitness in the 40k strain cannot be proximately attributed to the mutS mutation, which underlies the mutator phenotype; this mutation arose ∼3000 generations into the LTEE (Sniegowski et al., 1997) and is already present in the 20k strain.
When compared to the wild-type protein, 12 of the 13 disease-causing mutations tested abrogated DNA binding; notably, the Gly70Arg mutation, which underlies VWS, had little effect on DNA binding (Fig. 3B).
In parallel experiments, the p.Pro70Thr amelogenin mutation which underlies AI in a human kindred (15), generated a similar increase in apoptosis that was also abrogated by 4-phenylbutyrate (Supplementary Material, Fig. S3B).
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The ability to describe, understand and respond to these evolutionary processes continues to depend upon the identification of the precise genetic mutations which underlie the resistance phenotypes.
As whole genome sequencing becomes less expensive, these problems will likely be ameliorated by sequencing a few distantly related individuals from each breed and this approach may also be used to identify the candidate mutations which underlie each sweep.
DOI: http://dx.doi.org/10.7554/eLife.04249.003 As the missense mutations which underlie KID syndrome act in a dominant manner (Jonard et al., 2008; Xu and Nicholson, 2013), we tested whether the expression of Cx26A88V subunits might have a dominant negative action on the CO2 sensitivity of Cx26WT.
We identified the same candidate mutation in HvPHYC, which underlies the early maturity 5 (eam5) locus, using whole-exome capture and a mapping-by-sequencing approach (Schneeberger et al. 2009; Mascher et al. 2013a) applied on a backcross population between the spring barley Bowman and the introgression line Bowman eam5) (Druka et al. 2011).
The defective muscle regeneration suggests that our muscle-specific Dlk1 mutation may also affect the normal function of satellite cells, which underlies muscle regeneration.
I didn't have that tension which underlies everything.
The ability to sequence tumors from cancer patients has revealed specific gene mutations acquired by tumor cells, which underlie tumor growth, so called 'driver' mutations.
Lis1, a mutation of which underlies human lissencephaly, is a regulatory protein of the microtubule motor dynein, and is highly conserved from human to Drosophila.
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