Nonsense-mediated mRNA decay (NMD) is of universal biological significance1-3. It has emerged as an important global RNA, DNA and translation regulatory pathway4. By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with X-linked mental retardation, we identified mutations in the UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B) leading to protein truncations in three families: two with the Lujan-Fryns phenotype5,6 and one with the FG phenotype7. We also identified a missense mutation in another family with nonsyndromic mental retardation. Three mutations lead to the introduction of a premature termination codon and subsequent NMD of mutant UPF3B mRNA. Protein blot analysis using lymphoblastoid cell lines from affected individuals showed an absence of the UPF3B protein in two families. The UPF3B protein is an important component of the NMD surveillance machinery8,9. Our results directly implicate abnormalities of NMD in human disease and suggest at least partial redundancy of NMD pathways.
There seems to be a gap between editors' criteria for authorship and researchers' practice. Lack of awareness of criteria is only a partial explanation. Researchers give more weight than editors to practical research contributions. Future criteria should be agreed by researchers and not be imposed by editors.
In 3 experiments, subjects were required to detect the presence of a small region of disparate texture embedded in a larger background at a range of eccentricities. Detection performance always peaked several degrees from fixation. Experiment 1 showed that the location of the peak was not retinally specific; scaling the display changed the location of the performance peak. Experiment 2 showed that poor foveal performance could not be explained by cross-frequency interference; filtering out high spatial frequencies did not lead to improved foveal performance. Experiment 3 showed that the effect is not unique to textures comprising left and right oblique line segments. A parsimonious account of these data is that, at the fovea, there is a mismatch between the scale of the texture and the scale of the mechanisms responsible for encoding texture differences. This mismatch diminishes as the textures are moved further into the periphery.
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