BACKGROUND Hypophosphatasia (HP) is an inborn error of bone metabolism characterized by a genetic defect in the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP). There is a lack of knowledge as to how the variability and clinical severity of the HP phenotype (especially pain and walking impairment) are related to metabolic disturbances or impairments, subsequent to the molecul...

In eukaryotic cells, the gene expression status is strictly controlled by epigenetic modifications on chromatin. The repressive status of chromatin largely contributes to HIV latency. Studies have shown that modification of histone H3K27 acts as a key molecular switch for activation or suppression of many cellular genes. In this study, we found that K27-acetylated histone H3 specifically recrui...

Enzymes in the de novo purine biosynthesis pathway are recruited to form a dynamic metabolic complex referred to as the purinosome. Previous studies have demonstrated that purinosome assembly responds to purine levels in culture medium. Purine-depleted medium or 2-dimethylamino-4,5,6,7-tetrabromo-1H-benzimidazole (DMAT) treatment stimulates the purinosome assembly in HeLa cells. Here, several m...

Some models of vaccination behavior imply that an individual's willingness to vaccinate could be negatively correlated with the vaccination rate in her community. The rationale is that a higher community vaccination rate reduces the risk of contracting the vaccine-preventable disease and thus reduces the individual's incentive to vaccinate. At the same time, as for many health-related behaviors...

Sensory information the foot receives appears to be related to kinematic variability. Since footwear material densities affect sensory information, footwear may be an important factor that dictates variability. This study hypothesized that modifications in footwear would result in changes in kinematic variability during the running stance period. Subjects ran on a treadmill for three conditions...

Despite more than half a century of research, the evolutionary origin of termites remains unresolved [1] [2] [3]. A clear picture of termite ancestry is crucial for understanding how these insects evolved eusociality, particularly because they lack the haplodiploid genetic system associated with eusocial evolution in bees, ants, wasps and thrips [4] [5]. Termites, together with cockroaches and ...

It has been observed for several proteins that slowing down the rate at which individual codons are translated can increase their probability of cotranslational protein folding, while speeding up codon translation can decrease it. Here we investigate whether or not this inverse relationship between translation speed and the cotranslational folding probability is a general phenomenon or if other...

N(alpha)-acetylation, the most common protein modification, involves the transfer of an acetyl group from acetyl-coenzyme A to the N-terminus of a protein or peptide. The major N(alpha)-acetyltransferase in Saccharomyces cerevisiae is the ARDI-NATI complex. To investigate N(alpha) -acetylation in Trypanosoma brucei we have cloned and characterised genes encoding putative homologues of ARD1 and ...

In human translation, translators first make draft translations and then modify and edit them. In the case of experienced translators, this process involves the use of wide-ranging expert knowledge, which has mostly remained implicit so far. Describing the difference between draft and final translations, therefore, should contribute to making this knowledge explicit. If we could clarify the exp...

Since the function of a short contiguous peptide minimotif can be introduced or eliminated by a single point mutation, these functional elements may be a source of human variation and a target of selection. We analyzed the variability of ∼300 000 minimotifs in 1092 human genomes from the 1000 Genomes Project. Most minimotifs have been purified by selection, with a 94% invariance, which supports...