OBJECTIVE Genetic epilepsies and many other human genetic diseases display phenotypic heterogeneity, often for unknown reasons. Disease severity associated with nonsense mutations is dependent partially on mutation gene location and resulting efficiency of nonsense-mediated mRNA decay (NMD) to eliminate potentially toxic proteins. Nonsense mutations in the last exon do not activate NMD, thus pr...

Smg1 is a key component of nonsense-mediated decay (NMD) in Caenorhabditis elegans and mammals. Here we report that two nonsense alleles of the ortholog of Smg1 do not affect NMD in Drosophila melanogaster.

Auld et al. (1) suggest that PTC124’s nonsense suppression activity may be an indirect consequence of the compound’s effects on firefly luciferase (FLuc) enzymatic activity. However, our initial characterization of potential nonsensesuppressing compounds in FLuc assays also utilized independent assays of nonsense suppression in disease-relevant systems, including assays measuring synthesis of f...

Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form‌ of colorectal cancer and an autosomal dominant inheri...

Numerous studies have established important roles for microRNAs (miRNAs) in regulating gene expression. Here, we report that miRNAs also serve as a surveillance system to repress the expression of nonsense mRNAs that may produce harmful truncated proteins. Upon recognition of the premature termination codon by the translating ribosome, the downstream portion of the coding region of an mRNA is r...

This paper provides an exact formula for the second moment of empirical correlation (also known as Yule’s “nonsense correlation”) two independent standard Gaussian random walks, well implicit formulas higher moments. We also establish rates convergence walks to Wiener processes.

The irrepressible Bernard E. Rollin has written a lively, provocative, and scholarly book on several pivotal bioethical issues in nonhuman animal research. Professor Rollin of Colorado State University asksand answers whether nonhuman animals think, feel, and suffer. Rollin asks whether the prevailing scientific justification for banning nonhuman animals is based on rational assessment of the i...