Sentence examples for interaction of mutations in from inspiring English sources

By contrast, digenic inheritance occurs in cases where the interaction of mutations in two different genes is required for the expression of the clinical phenotype.

Here we report our study demonstrating the interaction of mutations in both IRA2 in yeast and Nf1 in murine hematopoietic cells with the cellular consequences of HQ exposure.

Thus, as already shown for other excitability disorders such as LQTS, BrS, or familial epilepsy (Crotti et al, 2005; Poelzing et al, 2006; Klassen et al, 2011), phenotypic variation in cardiac arrhythmia may be originated in the functional interaction of mutations in known predisposing genes (SCN5A) with additional mutations in novel genes as shown here with KCNK17.

One of the best characterized oligogenic disorders is Bardet Biedl syndrome (BBS) where at least 17 genes are known to contribute to the clinical phenotype, and the severity of the disease phenotype may vary as a result of the interaction of mutations in different BBS genes.

It should be acknowledged that background selection and genetic hitchhiking deal with groups of neighboring mutations from the same locus (Hill and Robertson 1966; Stephan 2010), whereas Fisher, Wright, and later researchers considered interactions of mutations in a few loci (Fisher 1930; Wright 1965; Bodmer and Felsenstein 1967; Gavrilets and Hastings 1994).

The average levels of epistasis observed in studies of mutation interaction in microbes have typically not supported the negative model (e.g., Jasnos et al. 2008 ; Lali and Elena 2012 ), but those studies have been limited to interactions among few mutations, not necessarily shedding light on interaction terms for large numbers of mutations in the T7 populations.

To test whether this surface, which includes residues on the p31(comet) 'safety-belt' and a short loop bordering this motif, is responsible for TRIP13 interaction, we generated a series of mutations in M. musculus p31(comet).

DOI: http://dx.doi.org/10.7554/eLife.08287.021 We then determined whether the RING domain of Vilya is required for this interaction by generating a series of mutations in Vilya that disrupt critical residues in the RING domain and testing each for the ability to interact with Mei-P22 in a yeast two-hybrid system.

To investigate the interaction of gene mutations in the pathogenesis of adult AML, a complete mutational screening of 17 other genes was performed in all 500 patients (Table 3).

Next, we resorted to the same experimental approach to test whether CRX/NR2E3 protein interactions were altered in presence of mutations in the NR2E3 DBD.

However, interactions between the two types of mutations in terms of how they influence fitness in the absence of antibiotics are less clear.