Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy

BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis,which can be very poor.AIM To identify pathogenic genes in DCM through pedigree analysis.METHODS Our research team identified a patient with DCM in the clinic.Through invest-igation,we found that the family of this patient has a typical DCM pedigree.High-throughput sequencing technology,next-generation sequencing,was used to sequence the whole exomes of seven samples in the pedigree.RESULTS A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered.The mutation was completely consistent with the clinical information for this DCM pedigree.Sanger sequencing was used to further verify the locus of the mutation in pedigree samples.These results were consistent with those of high-throughput sequencing.CONCLUSIONS ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.

Bioinformatics Analysis on Pathogenic Genes of Botrytis cinerea Pers.

With reported pathogenic genes of Botrytis cirterea Pers. and unknown proteins related to pathogencity as experimental materials, the pathogenic genes were studied by bioinformatics methods, and these unknown proteins were analyzed with bioinforrnaties tools and softwares, so as to lay a theoretical basis for the control of tomato grey mould at molecular level in future. The results showed that through the alignment analysis by DNAMAN software, three pairs of unknown pro- teins with higher comprehensive matching degrees were obtained, and these proteins were predicted to be coded by hrp gene cluster of type Ili secretion system; through Bioedit and ProtParam, the amino acid composition, size, molecular weight, isoelectrie point and hydrophobicity of the each of the six unknown proteins were obtained; and corresponding secondary structures were obtained using DNAMAN. The results of this study could guide deep research of such genes.

A Mutant Gene Found to Be the Pathogenic Origin of Infantile Cataract

According to a report in the June 24 issue of Nature Genetics, mutations in a gene named heat-shock transcription factor 4 (HSF4) have been discovered to be responsible for lamellar and Marner cataract. Experts believe that this will open new horizons for revealing the pathogenic origin of congenital cataract. ……

Molecular basis of pathogenesis of postharvest pathogenic Fungi and control strategy in fruits: progress and prospect

The disease caused by pathogenic fungi is the main cause of postharvest loss of fresh fruits.The formulation of disease control strategies greatly depends on the understanding of pathogenic mechanism of fungal pathogens and control strategy.In recent years,based on the application of various combinatorial research methods,some pathogenic genes of important postharvest fungal pathogens in fruit have been revealed,and their functions and molecular regulatory networks of virulence have been explored.These progresses not only provide a new perspective for understanding the molecular basis and regulation mechanism of pathogenicity of postharvest pathogenic fungi,but also are beneficial to giving theoretical guidance for the creation of new technologies of postharvest disease control.Here,we synthesized these recent advances and illustrated conceptual frameworks,and identified several issues on the focus of future studies.

Adaptation of pine wood nematode,Bursaphelenchus xylophilus,early in its interaction with two Pinus species that differ in resistance

Pine wilt disease(PWD)is one of the most devastating diseases of Pinu s spp.and is caused by the pine wood nematode(PWN),Bursaphelenchus xylophilus(Steiner&Buhrer)Nickle.To study adaptation of PWN to survive in hosts that differ in resistance,we examined the self-regulatory characteristics of PWN at the biological and molecular levels early in the interaction.Two-year-old susceptible Pinus thunbergii and resistant Pinus taeda were selected for this experiment,and changes in PWNs after inoculation were assessed.q RT-PCR was used to detect changes in genes related to PWN pathogenicity and detoxification.The results showed that the migration and reproductive abilities of PWNs in P.thunbergii were stronger than those of PWNs in P.taeda.After 7 d,the number of nematodes in P.thunbergii was approximately 3.2-fold higher than in P.taeda.After 15 d,the number of nematodes in P.thunbergii was approximately twofold higher than that in P.taeda.Because PWN can adjust its sex ratio after infection,we compared the sex ratio of uninoculated PWNs,to that in the two pine species.In P.thunbergii,the female to male ratio first decreased and then stabilized over time;in P.taeda first decreased and then increased.Relative fat accumulation in PWNs increased significantly after the PWNs entered the tree body;the accumulation rate in P.thunbergii was higher than in P.taeda at 7 d,but lower after 15 d.Scanning electron microscopy(SEM)showed significantly more bacteria on the surface of PWNs in P.taeda compared with PWNs in susceptible P.thunbergii.At 12 h after inoculation,the expression of genes related to cell-wall degradation(Bx Beta1-4 and Bxpel1),effectors(Bx CDP1,Bx Sap B1),and active oxygen metabolism(Bxy-ctl-1 and Bx GST3)was 2–6×higher in the resistant pine than in the susceptible one.In contrast,in PWNs,the expression of autophagy-related genes Bx ATG1 and Bx ATG16 was 1.5–2 times higher in P.thunbergii than in P.taeda.These results indicate that the interaction between PWNs and pine trees with different resistance levels elicits a series of physiological and molecular adaptations that affect nematode reproduction and virulence.This study will help elucidate the adaptive mechanisms of PWN in different pine trees.

Characterization of an Organ Specific and Pathogen Responsive CC-NBS-LRR Gene from Cotton(Gossypium hirsutum L.)

Cotton diseases represent a major challenge to cotton growth.Cloning of a cotton pathogen response gene and promoter is of great importance to improve disease resistance.In this study,a

水稻白叶枯病菌在寄主体内外不同生长条件下致病基因差异表达的分析

To demonstrate the expression profiling of Xanthomonas oryzae pv.oryzae(Xoo) in vitro and in planta,DNA microarrays of 371 genes potentially associated with pathogenicity and virulence were used to compare the transcriptional level alteration of the wild-type strain PXO99A and gene deletion mutants ΔgacAxoo and ΔfleQxoo of Xoo grown in the rich medium NBY vs.hrp-inducing minimal medium XOM2 or leaf tissues of rice.Results indicated that 17 and 38 genes of PXO99A were differentially expressed in XOM2 and the leaf tissues of rice relative to NBY,respectively.Twenty-eight genes of ΔgacAxoo grown in XOM2 and 12 genes of ΔfleQxoo in NBY were differentially expressed relative to PXO99A.The identification of differentially-expressed genes,GacAxoo-and FleQxoo-regulons and novel candidate genes of Xoo strains would provide us the target genes for further functional analysis in pathogenesis of Xoo.

Evaluation of bacterial pathogen diversity,abundance and health risks in urban recreational water by amplicon next-generation sequencing and quantitative PCR

The microbial quality of urban recreational water is of great concern to public health.The monitoring of indicator organisms and several pathogens alone is not sufficient to accurately and comprehensively identify microbial risks.To assess the levels of bacterial pathogens and health risks in urban recreational water,we analyzed pathogen diversity and quantified four pathogens in 46 water samples collected from waterbodies in Beijing Olympic Forest Park in one year.The pathogen diversity revealed by 16 S r RNA gene targeted next-generation sequencing（NGS） showed that 16 of 40 genera and 13 of 76 reference species were present.The most abundant species were Acinetobacter johnsonii,Mycobacterium avium and Aeromonas spp.Quantitative polymerase chain reaction（q PCR） of Escherichia coli（uid A）,Aeromonas（aer A）,M.avium（16S r RNA）,Pseudomonas aeruginosa（oaa） and Salmonella（inv A） showed that the aer A genes were the most abundant,occurring in all samples with concentrations of 10^（4–6） genome copies/100 m L,followed by oaa,inv A and M.avium.In total,34.8% of the samples harbored all genes,indicating the prevalence of these pathogens in this recreational waterbody.Based on the q PCR results,a quantitative microbial risk assessment（QMRA） showed that the annual infection risks of Salmonella,M.avium and P.aeruginosa in five activities were mostly greater than the U.S.EPA risk limit for recreational contacts,and children playing with water may be exposed to the greatest infection risk.Our findings provide a comprehensive understanding of bacterial pathogen diversity and pathogen abundance in urban recreational water by applying both NGS and q PCR.

Reproductive medicine and congenital heart disease

With the development of medical genetics,reproductive medicine has made considerable contributions to treatment of birth defects,a reduction in the incidence of birth defects,implementation of eugenics and fertility,and improvement of population quality.Congenital heart disease is a common birth defect and is the most serious among all birth defect diseases and seriously endangers the physical and mental health of children in China.In this article,we review the latest research progress of congenital heart disease in the field of reproduction.