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Mutational inactivation can be used as selectable marker for mutator genotyping as well as analysis of mutations in APT locus on nucleotide level [ 4– 6].
In the present study, we generated a mutator malaria parasite (hereinafter called a 'malaria mutator') using a rodent malaria parasite, Plasmodium berghei ANKA by eliminating the proofreading activity of its DNA polymerase δ and performed genome-wide analysis of mutations in order to see whether mutation rate in the mutator increased as expected.
Most of what we know about genetic contributions to disease so far comes from analysis of mutations in protein-coding genes.
Analysis of mutations in a gene encoding the Gα subunit of rice termed dwarf1 (d1) showed that Gα is involved in stem elongation and the determination of seed shape in rice and influences gibberellin signal transduction (Fujisawa et al. 2001).
Analysis of mutations in autophagy in S. cerevisiae identified two UBLps involved in this system, termed ATG8 and ATG12 [58].
Segregation analysis of mutations in families and 100 unrelated ethnically matched controls was performed by direct sequencing.
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BM participated in the generation of the mutant collection, in the analysis of mutations and in the writing of the manuscript.
CAB participated in the conception, design and supervision of the study, in the analysis of mutations and in the writing of manuscript.
aCGH analysis identified dozens of mutations in each strain analyzed.
After the initial analysis of mutations with known in vitro enzymatic activity, we further analyzed the novel mutations herein described using both models in parallel.
Thus, the analysis of mutation signatures in catalogs of somatic mutations from tumors is promising but in its infancy.
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