This strongly suggests that natural selection within lymphocyte populations favors the survival and proliferation of cells expressing these VCA domain-restoring alleles over cells expressing the inherited WASPΔVCA allele or somatic mutations that fail to restore protein function.
A further role of Dumpy in cuticle adhesion is revealed by certain larval lethal dumpy mutations that fail to molt due to a failure of cuticle detachment rather than a failure of adhesion.
Reduced penetrance is not uncommon; indeed, there are many known examples of 'disease-causing mutations' that fail to cause disease in at least a proportion of the individuals who carry them.
Thus, there was a trend for better tumor response to treatment in case of p53 mutation that failed, however, to reach statistical significance (χ-test p = 0.56).
In addition, a similar result was seen for one of our mutant lines bearing a more C-terminal truncation of the tail (mutation 47B3 containing a W561X change); however, as two other lines that bear the same mutation (6E3, 14B2) show Fz immunolabeling at junctions, we conclude that 47B3 most likely bears a second-site regulatory mutation that fails to produce Fz protein.
Globally, the number of gains was highly associated with poor outcome (P=7.4 × 10−12) and when combined with FOXO1 mutations identified 77% of cases that failed to achieve EFS24.
Instead, an extensive mass of coiled sperm bundles accumulates at the base of Ntl mutant testes (Fig. 4 B, D, F, H asterisks). Presumably because of the great physical complexity of the sperm individualization process [53], [54], a large proportion of male-sterile mutations produce elongated cysts that fail to be matured into individual sperm.
Moreover, studies on skeletal muscle cDNA resulted in: (i) the identification of mutations that genomic direct analysis failed to detect, and (ii) understanding the effect of PYGM mutations in gene expression [10].
This is particularly evident in protein domains involved in direct physical interactions with other proteins, where protein interaction may fail if mutations that change the protein structure occur at the site of interaction.
A resistance analysis from THRIVE and ECHO demonstrated that the most common NNRTI-resistant mutation that emerged when subjects failed rilpivirine was E138K (77%), and K103N (57%) in subjects who failed efavirenz.
