Molecular cloning and functional analysis of the follicle-stimulating hormone (FSH) receptor gene promoter from the Jintang black goat

A 762 bp fragment of the 5’-flanking region of the FSHR gene from the Jintang black goat was cloned. The putative initial transcript site was the A at 681 bp and there were 7 putative cis-acting elements and 3 AT-rich regions. The sequence of the FSHR promoter from the Jintang black goat is 99.34% homology to Capra hircus, 32.38% to Gallus gallus and 38.55% to mouse. It could promote the EGFP, FSHR transcription in HEK293 cells, the fluorescence intensity was weaker than the CMV promoter, but the expressed FSHR could respond to the FSH signaling with signal intensity much higher than that at 24 h. This indicated that the FSHR promoter of the Jintang black goat is a strong promoter and may be a gene-special promoter.Key words: Follicle-stimulating hormone receptor, gene promoter, Jintang black goat, molecular cloning, functional analysis

Axin1 Prevents Salmonella Invasiveness and Inflammatory Response in Intestinal Epithelial Cells

Axin1 and its homolog Axin2 are scaffold proteins essential for regulating Wnt signaling. Axin-dependent regulation of Wnt is important for various developmental processes and human diseases. However, the involvement of Axin1 and Axin2 in host defense and inflammation remains to be determined.Here, we report that Axin1, but not Axin2, plays an essential role in host-pathogen interaction mediated by the Wnt pathway. Pathogenic Salmonella colonization greatly reduces the level of Axin1 in intestinal epithelial cells. This reduction is regulated at the posttranslational level in early onset of the bacterial infection. Further analysis reveals that the DIX domain and Ser614 of Axin1 are necessary for the Salmonella-mediated modulation through ubiquitination and SUMOylation.Axin1 apparently has a preventive effect on bacterial invasiveness and inflammatory response during the early stages of infection. The results suggest a distinct biological function of Axin1 and Axin2 in infectious disease and intestinal inflammation while they are functionally equivalent in developmental settings

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Purpose Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort. Methods We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays. Results Our data present evidence for a loss-of-function mechanism of SETD1B variants, resulting in a core clinical phenotype of global developmental delay, language delay including regression, intellectual disability, autism and other behavioral issues, and variable epilepsy phenotypes. Developmental delay appeared to precede seizure onset, suggesting SETD1B dysfunction impacts physiological neurodevelopment even in the absence of epileptic activity. Males are significantly overrepresented and more severely affected, and we speculate that sex-linked traits could affect susceptibility to penetrance and the clinical spectrum of SETD1B variants. Conclusion Insights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the SETD1B-related syndrome

Transcriptional regulation of oil biosynthesis in seed plants: current understanding, applications and perspectives

Plants produce and accumulate triacylglycerol (TAG) in their seeds as an energy reservoir to support the processes of seed germination and seedling development. Plant seed oils are vital not only for human diets but also as renewable feedstock for industrial uses. TAG biosynthesis consists of two major steps: de novo fatty acid biosynthesis in the plastids and TAG assembly in the endoplasmic reticulum. The latest advances in unraveling transcriptional regulation have shed light on the molecular mechanisms of plant oil biosynthesis. This review summarizes the recent progress in understanding the regulatory mechanisms of well-characterized and newly discovered transcription factors and other types of regulators that control plant fatty acid biosynthesis. The emerging picture shows that plant oil biosynthesis responds to developmental and environmental cues that stimulate a network of interacting transcriptional activators and repressors, which, in turn, fine-tune the spatiotemporal regulation of the pathway genes.Ministry of Education (MOE)Submitted/Accepted versionThis work was supported by Ministry of Education (MOE) of Singapore Tier 1 to W.M. (RG29/20),MOE of Singapore Tier 2 to W.M. (MOE-T2EP30220-0011), National Key R&D Program of China to L.Y. (2019YFC1711100), Hubei Hongshan Laboratory Research Fund to L.G. (2021HSZD004) and HZAU-AGIS Cooperation Fund to L.G. (SZYJY2021004)

Modelling of soft tissue cutting in virtual surgery simulation: A literature review

Haptic and virtual reality-based surgery simulators are starting to be utilized to train surgical residents for some simple procedures, allowing them to operate on virtual human models with the aid of haptic devices with force feedback, overcoming training constraints and limitations such as a shortage of specimens, space, time and usage frequency. Compared with conventional training methods, surgery simulators have many advantages such as being risk-free and reusable, and training sessions can be stored and reviewed by physicians. However, it is very difficult to establish an accurate and efficient model for soft tissue deformation and cutting because human tissue is a special elastomeric material with non-linear, viscoelastic, anisotropic and incompressible properties. The cutting operation can change or destroy the topology of the initial model, making the entire modelling process very challenging. In this paper, four existing soft tissue cutting modelling methods are reviewed in detail - a mesh-based finite element method, a meshless method, a hybrid mesh-based and meshless method (HMMM) and an extended finite element method (XFEM). The advantages and disadvantages of each of these four algorithms are then compared and analysed in terms of a number of criteria, including their calculation speed, simulation precision, convergence and stability. Some suggestions are given for the XFEM and HMMM, which are now hot and active research topics in this field