Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700-1,000 live births among individuals of European descent. Several linkage and association studies of NSCL/P have suggested numerous candidate genes and genomic regions. A genomewide linkage analysis of a large multigenerational family (UR410) with NSCL/P was performed using a single-nucleotide-polymorphism array. Nonparametric linkage (NPL) analysis provided significant evidence of linkage for marker rs728683 on chromosome 18q21.1 (NPL=43.33 and P=.000061; nonparametric LOD=3.97 and P=.00001). Parametric linkage analysis with a dominant mode of inheritance and reduced penetrance resulted in a maximum LOD score of 3.61 at position 47.4 Mb on chromosome 18q21.1. Haplotype analysis with informative crossovers defined a 5.7-Mb genomic region spanned by proximal marker rs1824683 (42,403,918 bp) and distal marker rs768206 (48,132,862 bp). Thus, a novel genomic region on 18q21.1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus "OFC11" (orofacial cleft 11).     

Scanning electron microscopy of pollen structure throws light on resolving Bambusa–Dendrocalamus complex: bamboo flowering evidence

Since the introduction of the new genus Sinocalamus in 1940 which is now dissociated into Bambusa and Dendrocalamus, molecular markers have long been unable to discern members of the Bambusa–Dendrocalamus complex. Rapid concerted evolution governed by high level of transition/transversion at the noncoding DNA regions has limited the ability of internal transcribed spacer (rDNA) and trnL-F intergenic spacer to resolve Bambusa and Dendrocalamus in phylogenetic analysis. Based on scanning electron microscopy (SEM) analysis of Bambusa vulgaris and Dendrocalamus manipureanus pollen development, we provided the evidence that there exists genus specificity in the development and structure of woody bamboo pollen which can serve as a benchmark for allocated new species into the genus Bambusa and Dendrocalamus substantiating molecular data.     

Oxidative stress and its biomarkers in systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disease whose etiology remains largely unknown. The uncontrolled oxidative stress in SLE contributes to functional oxidative modifications of cellular protein, lipid and DNA and consequences of oxidative modification play a crucial role in immunomodulation and trigger autoimmunity. Measurements of oxidative modified protein, lipid and DNA in biological samples from SLE patients may assist in the elucidation of the pathophysiological mechanisms of the oxidative stress-related damage, the prediction of disease prognosis and the selection of adequate treatment in the early stage of disease. Application of these biomarkers in disease may indicate the early effectiveness of the therapy. This review is intended to provide an overview of various reactive oxygen species (ROS) formed during the state of disease and their biomarkers linking with disease. The first part of the review presents biochemistry and pathophysiology of ROS and antioxidant system in disease. The second part of the review discusses the recent development of oxidative stress biomarkers that relates pathogenesis in SLE patients and animal model. Finally, this review also describes the reported clinical trials of antioxidant in the disease that have evaluated the efficacy of antioxidant in the management of disease with ongoing conventional therapy.     

Effects of Small Intestinal Submucosa (SIS) on the Murine Innate Immune Microenvironment Induced by Heat-Killed Staphylococcus aureus

The use of biological scaffold materials for wound healing and tissue remodeling has profoundly impacted regenerative medicine and tissue engineering. The porcine-derived small intestinal submucosa (SIS) is a licensed bioscaffold material regularly used in wound and tissue repair, often in contaminated surgical fields. Complications and failures due to infection of this biomaterial have therefore been a major concern and challenge. SIS can be colonized and infected by wound-associated bacteria, particularly Staphylococcus aureus. In order to address this concern and develop novel intervention strategies, the immune microenvironment orchestrated by the combined action of S. aureus and SIS should be critically evaluated. Since the outcome of tissue remodeling is largely controlled by the local immune microenvironment, we assessed the innate immune profile in terms of cytokine/chemokine microenvironment and inflammasome-responsive genes. BALB/c mice were injected intra-peritoneally with heat-killed S. aureus in the presence or absence of SIS. Analyses of cytokines, chemokines and microarray profiling of inflammasome-related genes were done using peritoneal lavages collected 24 hours after injection. Results showed that unlike SIS, the S. aureus-SIS interactome was characterized by a Th1-biased immune profile with increased expressions of IFN-γ, IL-12 and decreased expressions of IL-4, IL-13, IL-33 and IL-6. Such modulation of the Th1/Th2 axis can greatly facilitate graft rejections. The S. aureus-SIS exposure also augmented the expressions of pro-inflammatory cytokines like IL-1β, Tnf-α, CD30L, Eotaxin and Fractalkine. This heightened inflammatory response caused by S. aureus contamination could enormously affect the biocompatibility of SIS. However, the mRNA expressions of many inflammasome-related genes like Nlrp3, Aim2, Card6 and Pycard were down-regulated by heat-killed S. aureus with or without SIS. In summary, our study explored the innate immune microenvironment induced by the combined exposure of SIS and S. aureus. These results have practical implications in developing strategies to contain infection and promote successful tissue repair.     

Assessment of genetic diversity of landraces of Dendrocalamus hamiltonii using AFLP markers and association with biochemical traits

Fermented bamboo shoots are popular traditional food items of various ethnic groups of the northeastern India, especially in Manipur State. Dendrocalamus hamiltonii is an economically important bamboo species used to produce fermented bamboo shoots. We studied genetic variability of this bamboo species in Chandel and Imphal-East (commercial production districts), using AFLP molecular markers. Each of the selected primers detected polymorphisms and 1614 (95.8%) were found to be polymorphic. Cluster analysis based on Dice similarity coefficients using UPGMA differentiated the populations into two major groups. Principal coordinate analysis based on the AFLP data clearly separated the populations according to their genetic diversity and antioxidant activity. Four primers were tested through multiple regression analysis to identify marker-trait association between AFLP data and biochemical attributes, i.e., antioxidant activity and total cyanide content. The 273 bp generated by EcoRI-AAG(Joe)/MseI-CTC showed high positive correlation with antioxidant activity (r = 0.729, P < 0.01). The 396 bp generated by EcoRI-AAC(Ned)/MseI-CTG were negatively correlated with cyanide content (r = -0.694, P < 0.01). Thus, we found association of DNA markers with antioxidant activities and total cyanide content. These results could be of use for the identification of superior genotypes with desirable traits.     

利用高代回交和分子标记辅助选择建立水稻单片段代换系

以水稻品种华梗籼74为受体,以6个水稻品种为供体．通过高代回交和微卫星标记辅助选择相结合的方法,建立了水稻的一个单片段代换系群体。该群体Fh86个单片段代换系组成,其中52个在BC3F2中获得,34个在BC3F3中获得。每个单片段代换系只含有来自一个供体的一个染色体代换片段,而遗传背景与华粳籼74相同。这些单片段代换系的代换片段分布于水稻的12条染色体,代换片段的长度为1．5～56．3cM,平均长度为23．0cM。全部代换片段在水稻基因组上的覆盖率为57．1％。     

Mycobacterial HSP70 as an adjuvant in the design of an idiotype vaccine against a murine lymphoma

Mycobacterial HSP70 protein coupled with ovalbumin is known to elicit antigen-specific CD8⁺ T-cell response. We investigated whether anti-idiotype immunity can likewise be enhanced using a conjugate of recombinant mycHSP70 and the Ig Id in a murine lymphoma model, A20. Plasmids were constructed of A20 tumor to generate A20Id-HSP70 (scFv-H), unconjugated A20Id (scFv), and mycHSP70 (H) recombinant proteins. We evaluated their relative efficacy in activating anti-tumor immunity that can reduce the mortality of tumor-challenged BALB/c mice; significantly, a longer term protection (>50% of the population) was observed in mice vaccinated with scFv-H compared to those receiving the scFv or H proteins. Concomitantly a much higher-level activation in anti-A20 cytotoxic T-cell activity, IFN-γ secretion and predominantly anti-A20 IgG2a response was also observed with the scFv-H group. Thus, conjugating HSP70 with the A20Id renders the latter significantly immunogenic and affords longer protection against A20 tumor progression.     

Arabidopsis thaliana and Thlaspi caerulescens respond comparably to low zinc supply

The main objective of this research was to study the response of Arabidopsis thaliana L. and Thlaspi caerulescens J. & C. Presl to different Zn supplies. The A. thaliana plants were exposed to Zn-deficiency (0 and 0.05 μM Zn) and compared to the plants grown on media containing standard Zn (2 μM). T. caerulescens plants were also exposed to Zn-deficiency (0.05 μM Zn), but as this is a Zn hyperaccumulator species, also to high Zn (1,000 μM Zn). Plants were compared to plants grown on standard Zn media (100 μM Zn). Both A. thaliana and T. caerulescens were found to be heavily affected by Zn deficiency, showing similar retarded growth and reduced reproduction phenotypes, and even less reduction in biomass production in T. caerulescens than in A. thaliana. T. caerulescens plants were similarly affected when grown on high Zn concentrations, with comparable effects on reproductive tissues as seen on low Zn supply.