Core promoter short tandem repeats as evolutionary switch codes for primate speciation

Alteration in gene expression levels underlies many of the phenotypic differences across species. Because of their highly mutable nature, proximity to the +1 transcription start site (TSS), and the emerging evidence of functional impact on gene expression, core promoter short tandem repeats (STRs) may be considered an ideal source of variation across species. In a genome-scale analysis of the entire Homo sapiens protein-coding genes, we have previously identified core promoters with at least one STR of ≥6-repeats, with possible selective advantage in this species. In the current study, we performed reverse analysis of the entire Homo sapiens orthologous genes in mouse in the Ensembl database, in order to identify conserved STRs that have shrunk as an evolutionary advantage to humans. Two protocols were used to minimize ascertainment bias. Firstly, two species sharing a more recent ancestor with Homo sapiens (i.e. Pan troglodytes and Gorilla gorilla gorilla) were also included in the study. Secondly, four non-primate species encompassing the major orders across Mammals, including Scandentia, Laurasiatheria, Afrotheria, and Xenarthra were analyzed as out-groups. We introduce STR evolutionary events specifically identical in primates (i.e. Homo sapiens, Pan troglodytes, and Gorilla gorilla gorilla) vs. non-primate out-groups. The average frequency of the identically shared STR motifs across those primates ranged between 0.00005 and 0.06. The identified genes are involved in important evolutionary and developmental processes, such as normal craniofacial development (TFAP2B), regulation of cell shape (PALMD), learning and long-term memory (RGS14), nervous system development (GFRA2), embryonic limb morphogenesis (PBX2), and forebrain development (APAF1). We provide evidence of core promoter STRs as evolutionary switch codes for primate speciation, and the first instance of identity-by-descent for those motifs at the interspecies level. © 2014 Wiley Periodicals, Inc

Novel designs for Penning ion traps

We present a number of alternative designs for Penning ion traps suitable for quantum information processing (QIP) applications with atomic ions. The first trap design is a simple array of long straight wires which allows easy optical access. A prototype of this trap has been built to trap Ca+ and a simple electronic detection scheme has been employed to demonstrate the operation of the trap. Another trap design consists of a conducting plate with a hole in it situated above a continuous conducting plane. The final trap design is based on an array of pad electrodes. Although this trap design lacks the open geometry of the traps described above, the pad design may prove useful in a hybrid scheme in which information processing and qubit storage take place in different types of trap. The behaviour of the pad traps is simulated numerically and techniques for moving ions rapidly between traps are discussed. Future experiments with these various designs are discussed. All of the designs lend themselves to the construction of multiple trap arrays, as required for scalable ion trap QIP.Comment: 11 pages, 10 figure

Molecular study of PKD1 & PKD2 genes by linkage analysis and determining the genotype/phenotype correlations in several Iranian families with autosomal dominant polycystic kidney disease

Background: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p 13.3, PKD2 on 4q21, and a third locus of unknown location. Methods: Here we report the first molecular genetic study of ADPKD and the existence of locus heterogeneity for ADPKD in the Iranian population by performing linkage analysis on 15 affected families. Results: Eleven families showed linkage to PKD1 and two families showed linkage to PKD2. In two families, PKD1 markers are common in all affected members but PKD2 markers were not informative. Conclusion: The results of this study demonstrate significant locus heterogeneity in autosomal dominant PKD in Iran. Analysis of clinical data confirms a milder ADPKD phenotype for PKD2 families. Our results showed relatively high heterozygosity rates and PIC values for some markers, while the most informative markers were KG8 and 16AC2.5 for PKD1 gene and AFM224x6 for PKD2 gene

Dynamics of axialized laser-cooled ions in a Penning trap

We report the experimental characterization of axialization - a method of reducing the magnetron motion of a small number of ions stored in a Penning trap. This is an important step in the investigation of the suitability of Penning traps for quantum information processing. The magnetron motion was coupled to the laser-cooled modified cyclotron motion by the application of a near-resonant oscillating quadrupole potential (the "axialization drive"). Measurement of cooling rates of the radial motions of the ions showed an order-of-magnitude increase in the damping rate of the magnetron motion with the axialization drive applied. The experimental results are in good qualitative agreement with a recent theoretical study. In particular, a classical avoided crossing was observed in the motional frequencies as the axialization drive frequency was swept through the optimum value, proving that axialization is indeed a resonant effect.Comment: 8 pages, 9 figure

Targeting Listeria monocytogenes consensus sequence of internalin genes using an antisense molecule

As an intracellular pathogen, Listeria monocytogenes can enter host cells where it can replicate and escape detection and eradication by the host immune response making the clearance of infection very challenging. Furthermore, with the advent of antimicrobial resistance, the need for alternative targets is inevitable. Internalin proteins are crucial to this bacterium as they contribute to bacterial entry to the systemic circulation. In this study, we targeted a highly conserved region of these proteins by an antisense sequence that was covalently conjugated to the cell penetrating peptides (CPP) to overcome the challenging delivery barriers. Then, we evaluated the efficiency of this construct in vitro. We also assessed the antigenicity, cytotoxicity, and probability of apoptosis induction by this construct. The studied CPP-PNA inhibited bacterial growth and suppressed the mRNA expression of internalins in a dose-dependent manner. In addition, at all studied concentrations, CPP-PNA significantly reduced the invasion rate of L. monocytogenes in the examined cell lines. Moreover, different concentrations of CPP-PNA did not have a significant antigenic, cytotoxic, and apoptotic properties compared to the control. These results suggest the effectiveness of CPP-antisense in targeting the mRNAs of internalins for various research, therapeutic and preventive purposes. However, additional research is required to evaluate the potency, safety, and pharmacokinetics of this compound for the prevention and treatment of listeriosis