Genetic testing: Psychological aspects and implications.

As the number of genes associated with inherited disease continues to grow, researchers and practitioners in behavioral medicine will encounter complex psychological issues faced by individuals at risk for these diseases. A review of the literature concerning prenatal, carrier, and predictive genetic testing suggests that the severity of psychological risks posed by research-based genetic testing is not great. However, subgroups of individuals with particular psychological traits may be more vulnerable to adverse effects. Available data do not provide evidence that genetic testing promotes changes in health-related behaviors. Thus, although there may be less of a role for mental health professionals in the psychological counseling of genetic testing participants, there is a need for research and practice to facilitate health protective behaviors in response to genetic risk information. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Sensitivity to the locomotor stimulant effects of ethanol and allopregnanolone is influenced by common genes.

Allopregnanolone is a neuroactive steroid that, like ethanol (EtOH), has stimulant, anxiolytic, ataxic, and depressant effects. Two experiments tested the hypothesis that sensitivity to the locomotor stimulant effects of these drugs is influenced by a common set of genes. Sensitivity to the locomotor stimulant effects of allopregnanolone was determined in 24 BXD recombinant inbred (RI) strains. Strain means were positively correlated with extant means for EtOH stimulation in 20 of the same strains. Quantitative trait locus (QTL) analysis provisionally identified many loci, including several known to influence sensitivity to EtOH. Sensitivity to allopregnanolone was also measured in FAST and SLOW mice, which were selectively bred for differential locomotor response to EtOH, to determine whether selection has also altered allopregnanolone sensitivity. FAST mice were more sensitive to the stimulant effects of allopregnanolone compared with SLOW mice. These data suggest that sensitivity to the locomotor stimulant effects of these drugs is influenced by common genes. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Sterility (ste) genes of Schizosaccharomyces pombe

In previous experiments of Girgsdies (1982), eight sterile (ste) mutants of Schizosaccharomyces pombe did not sporulate when fused with h⁺ or h^? protoplasts. We succeeded in achieving sporulation with these mutants. Two hitherto unknown ste genes, ste7 and ste8, were found.     

Patterns of Fos-like immunoreactivity in the brains of parent ring doves (Streptopelia risoria) given tactile and nontactile exposure to their young.

Neuronal activation was examined by fos immunohistochemistry in ring doves (Streptopelia risoria) reunited with their young after overnight separation. In an initial study, squab-exposed parents showed more fos immunoreactivity (ir) in the preoptic area (POA) and lateral hypothalamus (LH) than squab-deprived parents. In a 2nd study, parents allowed free access to young and those separated from young by a wire mesh partition showed more fos-ir in the POA, LH, and lateral septum than box-exposed controls. Contact with young also increased fos-ir in the medial preoptic nucleus and bed nucleus of the stria terminalis, but noncontact exposure did not. Conversely, nontactile squab exposure stimulated more fos-ir in the POA than did free access to young, which suggests POA involvement in appetitive aspects of parenting. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Hydrogenases, accessory genes and the regulation of [NiFe] hydrogenase biosynthesis in Thiocapsa roseopersicina

The purple (Sulphur) phototrophic bacterium, Thiocapsa roseopersicina BBS contains several [NiFe] hydrogenases, of which two are membrane bound. Mutant T. roseopersicina cells, carrying deletions in both gene clusters showed hydrogenase activity. This activity was located in the cytoplasm. The structural gene cluster hoxEFUYH was identified and sequenced. In addition, genes homologous to hupUV/hoxBC, the hydrogen sensing hydrogenase have been identified and sequenced.Regulation of hydrogenase biosynthesis was studied in detail for HydSL (renamed HynSL). A random mutagenesis system was optimised for T. roseopersicina. One of the mutations was in a gene similar to that coding for the HypF proteins in other organisms. Inactivation of the hypF gene resulted in a 60-fold increase in hydrogen evolution under nitrogen fixing conditions. In addition to hypF, the following accessory genes were identified: hydD, hupK, hypC1, hypC2, hypDE. Characterisation of the corresponding gene products and search for additional accessory genes are in progress.     

Genome-wide association studies (GWAS) and post-GWAS analyses for technological traits in Assaf and Churra dairy breeds

This study aimed to perform a GWAS to identify genomic regions associated with milk and cheese-making traits in Assaf and Churra dairy sheep breeds; second, it aimed to identify possible positional and functional candidate genes and their interactions through post-GWAS studies. For 2,020 dairy ewes from 2 breeds (1,039 Spanish Assaf and 981 Churra), milk samples were collected and analyzed to determine 6 milk production and composition traits and 6 traits related to milk coagulation properties and cheese yield. The genetic profiles of the ewes were obtained using a genotyping chip array that included 50,934 SNP markers. For both milk and cheese-making traits, separate single-breed GWAS were performed using GCTA software. The set of positional candidate genes identified via GWAS was subjected to guilt-by-association-based prioritization analysis with ToppGene software. Totals of 84 and 139 chromosome-wise significant associations for the 6 milk traits and the 6 cheese-making traits were identified in this study. No significant SNPs were found in common between the 2 studied breeds, possibly due to their genetic heterogeneity of the phenotypes under study. Additionally, 63 and 176 positional candidate genes were located in the genomic intervals defined as confidence regions in relation to the significant SNPs identified for the analyzed traits for Assaf and Churra breeds. After the functional prioritization analysis, 71 genes were identified as promising positional and functional candidate genes and proposed as targets of future research to identify putative causative variants in relation to the traits under examination. In addition, this multitrait study allowed us to identify variants that have a pleiotropic effect on both milk production and cheese-related traits. The incorporation of variants among the proposed functional and positional candidate genes into genomic selection strategies represent an interesting approach for achieving rapid genetic gains, specifically for those traits difficult to measure, such as cheese-making traits.     

老年人肠道乳酸菌的分离与鉴定及其来源发酵乳杆菌的遗传进化分析

首先对湖北襄阳和恩施地区的健康老年人肠道乳酸菌进行分离与鉴定,然后从中选择发酵乳杆菌（Lactobacillus fermentum）进行多位点序列分型（multilocus sequence typing,MLST）分析。结果显示,基于可培养方法,湖北襄阳与恩施地区老年人肠道乳酸菌可以鉴定为以乳杆菌属（Lactobacillus）为主的5 个菌属,15 个种。总的来说,发酵乳杆菌和唾液乳杆菌（L. salivarius）占老年人肠道源乳酸菌分离株总量的55%左右,表明人体肠道可以作为发酵乳杆菌的重要分离来源。基于8 个持家基因的MLST分析表明,25 株来源于肠道的发酵乳杆菌可以划分为25 个序列型,具有极高的遗传多样性;基于选择压力分析与phi-test,选用的8 个持家基因均受到纯化选择作用,且其中仅基因rpoB显著经历了基因重组事件;另外,基于Prim’s和goeBURST的进化分析表明,一半左右的肠道源发酵乳杆菌倾向于形成单独的分支,表明它们具有一定的宿主特异性,可能的原因是为适应肠道环境,这些发酵乳杆菌经历了有异于发酵食品生境的进化历程。     

Systemic Delivery of a STING Agonist-Loaded Positively Charged Liposome Selectively Targets Tumor Immune Microenvironment and Suppresses Tumor Angiogenesis

Although stimulator of interferon genes (STING) agonists has shown great promise in preclinical studies, the clinical development of STING agonist therapy is challenged by its limited systemic delivery. Here, positively charged fusogenic liposomes loaded with a STING agonist (PoSTING) are designed for systemic delivery and to preferentially target the tumor microenvironment. When PoSTING is administered intravenously, it selectively targets not only tumor cells but also immune and tumor endothelial cells (ECs). In particular, delivery of STING agonists to tumor ECs normalizes abnormal tumor vasculatures, induces intratumoral STING activation, and elicits robust anti-tumor T cell immunity within the tumor microenvironment. Therefore, PoSTING can be used as a systemic delivery platform to overcome the limitations of using STING agonists in clinical trials.