Combined sanger and ngs sequence analysis of the myostatin gene (mstn) in the Camelus dromedarius species

Different mutations have been identified in the myostatin gene (MSTN), some of which are responsible for protein inactivation and double muscling phenotype in mammals. So far, no extensive polymorphism survey has been carried out in Camelus dromedarius. We therefore performed a sequence analysis, adopting a combined strategy involving Sanger and next generation sequencing (NGS). Notably, 3.6 kb of the MSTN locus were Sanger sequenced in a population dataset including samples from Algeria (10), Tunisia (5), Egypt (9), Mauritania (5), Sudan (5) and Saudi Arabia (9). A further wholegenome dataset, including 7 C. dromedarius from Pakistan (1), Kenya (1), Saudi Arabia (3), Canary Islands (1) and Oman (1) were sequenced using the Illumina Hi-Seq 2000 technique at an average 15-fold coverage. Whole-genome NGS sequence data from 9 C. bactrianus and 7 C. ferus samples were also available for comparison. Overall, only four polymorphisms were detected, all of them were observed in intronic regions, corresponding to an average presence of one SNP per 1200 bps. Ten fixed sites were observed when comparing C. dromedarius MSTN sequences with those from C. bactrianus and C. ferus. The apparent low sequence diversity observed at the MSTN locus may reflect the peculiar evolutionary history of this species, with purifying selection and drift phenomena as the most likely acting forces.(Résumé d'auteur

A study of the gravitational wave form from pulsars II

We present analytical and numerical studies of the Fourier transform (FT) of the gravitational wave (GW) signal from a pulsar, taking into account the rotation and orbital motion of the Earth. We also briefly discuss the Zak-Gelfand Integral Transform. The Zak-Gelfand Integral Transform that arises in our analytic approach has also been useful for Schrodinger operators in periodic potentials in condensed matter physics (Bloch wave functions).Comment: 6 pages, Sparkler talk given at the Amaldi Conference on Gravitational waves, July 10th, 2001. Submitted to Classical and Quantum Gravit

Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis

Macrophages specialize in removing lipids and debris present in the atherosclerotic plaque. However, plaque progression renders macrophages unable to degrade exogenous atherogenic material and endogenous cargo including dysfunctional proteins and organelles. Here we show that a decline in the autophagy-lysosome system contributes to this as evidenced by a derangement in key autophagy markers in both mouse and human atherosclerotic plaques. By augmenting macrophage TFEB, the master transcriptional regulator of autophagy-lysosomal biogenesis, we can reverse the autophagy dysfunction of plaques, enhance aggrephagy of p62-enriched protein aggregates and blunt macrophage apoptosis and pro-inflammatory IL-1β levels, leading to reduced atherosclerosis. In order to harness this degradative response therapeutically, we also describe a natural sugar called trehalose as an inducer of macrophage autophagy-lysosomal biogenesis and show trehalose's ability to recapitulate the atheroprotective properties of macrophage TFEB overexpression. Our data support this practical method of enhancing the degradative capacity of macrophages as a therapy for atherosclerotic vascular disease

Analytic Kramer kernels, Lagrange-type interpolation series and de Branges spaces

The classical Kramer sampling theorem provides a method for obtaining orthogonal sampling formulas. In particular, when the involved kernel is analytic in the sampling parameter it can be stated in an abstract setting of reproducing kernel Hilbert spaces of entire functions which includes as a particular case the classical Shannon sampling theory. This abstract setting allows us to obtain a sort of converse result and to characterize when the sampling formula associated with an analytic Kramer kernel can be expressed as a Lagrange-type interpolation series. On the other hand, the de Branges spaces of entire functions satisfy orthogonal sampling formulas which can be written as Lagrange-type interpolation series. In this work some links between all these ideas are established

Cognitive appraisal of environmental stimuli induces emotion-like states in fish

The occurrence of emotions in non-human animals has been the focus of debate over the years. Recently, an interest in expanding this debate to non-tetrapod vertebrates and to invertebrates has emerged. Within vertebrates, the study of emotion in teleosts is particularly interesting since they represent a divergent evolutionary radiation from that of tetrapods, and thus they provide an insight into the evolution of the biological mechanisms of emotion. We report that Sea Bream exposed to stimuli that vary according to valence (positive, negative) and salience (predictable, unpredictable) exhibit different behavioural, physiological and neuromolecular states. Since according to the dimensional theory of emotion valence and salience define a two-dimensional affective space, our data can be interpreted as evidence for the occurrence of distinctive affective states in fish corresponding to each the four quadrants of the core affective space. Moreover, the fact that the same stimuli presented in a predictable vs. unpredictable way elicited different behavioural, physiological and neuromolecular states, suggests that stimulus appraisal by the individual, rather than an intrinsic characteristic of the stimulus, has triggered the observed responses. Therefore, our data supports the occurrence of emotion-like states in fish that are regulated by the individual's perception of environmental stimuli.European Commission [265957 Copewell]; Fundacao para a Ciencia e Tecnologia [SFRH/BD/80029/2011, SFRH/BPD/72952/2010]info:eu-repo/semantics/publishedVersio

Integrating transposable elements in the 3D genome

Chromosome organisation is increasingly recognised as an essential component of genome regulation, cell fate and cell health. Within the realm of transposable elements (TEs) however, the spatial information of how genomes are folded is still only rarely integrated in experimental studies or accounted for in modelling. Whilst polymer physics is recognised as an important tool to understand the mechanisms of genome folding, in this commentary we discuss its potential applicability to aspects of TE biology. Based on recent works on the relationship between genome organisation and TE integration, we argue that existing polymer models may be extended to create a predictive framework for the study of TE integration patterns. We suggest that these models may offer orthogonal and generic insights into the integration profiles (or "topography") of TEs across organisms. In addition, we provide simple polymer physics arguments and preliminary molecular dynamics simulations of TEs inserting into heterogeneously flexible polymers. By considering this simple model, we show how polymer folding and local flexibility may generically affect TE integration patterns. The preliminary discussion reported in this commentary is aimed to lay the foundations for a large-scale analysis of TE integration dynamics and topography as a function of the three-dimensional host genome

Correlation of Serum IL-1β Level in Rheumatoid Arthritis Patients with Disease Severity Parameters

Rheumatoid arthritis (RA) is a systemic inflammatory, chronic disorder, characterized by prolonged inflammation of the synovial joints, with ultimate destruction of joints, high concentrations of IL-1β in the synovial fluid and serum RA patients correlated with RA incidence. This study was conducted to compare IL-1β concentration in serum from patients with RA and healthy controls with the correlation parameter being related to markers indicating disease severity. A case-control study enrolled 71 patients with RA and 46 healthy controls from an Iraqi Arab population. In the present study, the level of serum IL-1β was detected using a quantitative sandwich enzyme immunoassay method of Enzyme-Linked Immunosorbent Assay (ELISA). This study found a correlation between the serum level of IL-1β and DAS28-CRP severity among RA patients (p=0.065). Furthermore, the serum level of IL-1β was significantly increased in RA patients compared to the level noted in the healthy group (p=0.039). Moreover, the results demonstrated a very weak correlation between the IL-1β level with CRP, ESR, and ACCP (r=0.079, r=0.059, r=0.080), respectively. In conclusion, the current study showed a correlation between the serum level of IL-1β and RA disease severity (DAS28) among the Iraqi Arab population, additionally, the study noted a very weak correlation between the IL-1β level with CRP, ESR, and ACCP

Correlation of CDX2 Protein Expression with Clinicopathologic Features and Survival Rate in Iraqi Patients with Colorectal Cancer

Predicting the prognosis of colorectal cancer (CRC) is challenging since these tumors exhibit a wide range of biological behaviors. It has been hypothesized that caudal-related homeobox gene 2 (CDX2), which is vital for intestinal growth and maintenance, has a tumor-suppressing effect and promising role in CRC prognosis but studies are still controversial. This study used the immunohistochemical (IHC) staining method to determine the expression of the CDX2 protein in mucinous and non-mucinous CRC adenocarcinoma, as well as in normal colorectal tissues as a control, and correlate this expression with clinicopathological features such as grade, tumor distant metastasis, tumor site, histological type, lymph node metastasis, tumor invasion, sex, age, and rate of 4 years Overall survival (OS) after diagnosis. A total of sixty three tissue samples were obtained from CRC patients (58.90±14.94) years and embedded in wax and thirty-seven normal non-tumoural colorectal tissue samples with (56.43±12.28) years as a control group. CDX2 protein expression decreased significantly (p<0.05) in CRC patients than control, advanced age, mucinous pattern of CRC, moderate and poorly differentiated grades, lymph node metastasis, advanced tumor invasion (T3, T4), and organs metastasis. Moreover, the (OS) for patients with low CDX2 expression was (17.943±1.7) months compared to (33.431±2.7) months for those with high CDX2 expression (p = 0.0001). This study concluded that protein expression of CDX2 is regarded as a prognostic and diagnostic marker for CRC patients