bluuebunny/crossref_metadata_2025_split huggingface dataset:
Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey
Authors: Nakamura Takumi , Kazuno An‐a , Nakajima Kazuo , Kusumi Ichiro , Tsuboi Takashi , Kato Tadafumi 
Published: April 2016

AimThough genetic factors play a major role in the pathophysiology of psychoses including bipolar disorder (BD) and schizophrenia, lack of well‐established causative genetic mutations hampers their neurobiological studies. Darier's disease, an autosomal dominant skin disorder caused by mutations of ATP2A2 on chromosome 12q23‐24.1, encoding sarco/endoplasmic reticulum calcium transporting ATPase 2 (SERCA2), reportedly cosegregates with BD. A recent genome‐wide association study showed an association of schizophrenia with ATP2A2.MethodsWe sequenced all coding regions of ATP2A2 in a newly identified patient with Darier's disease and BD. In addition, we performed a literature survey to examine whether likely gene disrupting (LGD) mutations are related to psychoses.ResultsWe identified a rare heterozygous mutation, c.1288‐6A>G, at the 3′ end of intron 10 in the patient. A minigene splicing assay showed that this mutation introduces a new splice site causing a frameshift and premature stop codon. A literature survey of case reports of patients with Darier's disease and psychoses revealed that the rate of LGD mutations causing frameshift, altered splicing, gain of stop codon, or loss of start codon was significantly higher among the mutations harbored by these cases (9 of 11) than that of ATP2A2 mutations for which comorbidity of psychosis was not reported (107 of 237, P = 0.026). The only non‐LGD mutation (p.C560R) reported in patients with Darier's disease and BD caused decreased ATP2A2 protein expression.ConclusionThese results suggest that psychoses in Darier's disease may be caused by a pleiotropic effect of loss‐of‐function mutations of ATP2A2.
Plant genotype affects the quality of oilseed rape (Brassica napus) for adults and larvae of the pollen beetle (Meligethes aeneus)
Authors: Hervé Maxime R. , Delourme Régine , Cortesero Anne Marie 
Published: April 2016

AbstractPlant quality is one of the main factors influencing the fitness of phytophagous insects. Plant quality can vary not only among genotypes of the same host plant species, but also relative to the insect sex or its life stage. In the present study, the performance of larvae and adults of the pollen beetle (Meligethes aeneus F., Coleoptera: Nitidulidae), a major insect pest of oilseed rape crops, is compared on six genotypes of oilseed rape (Brassica napus). All of the traits that are measured vary among genotypes, and comprise larval developmental duration, life span of unfed emerging adults and survival time of field‐sampled adults fed with pollen from the different genotypes. No correlation is found between insect performance and quantity of food available, showing that the quality of the food (i.e. pollen) is the fitness determinant for this insect species. Additionally, the performance of larvae and adults is also not correlated despite use of the same plant genotypes, suggesting that the determinants of pollen quality differ at least partially between both life stages. It is hypothesized that this may be a result of extensive differences in diet breadth between the life stages: larvae are specialists of brassicaceous plants, whereas adults are generalists. Finally, it is suggested that the manipulation of plant quality to increase pollen beetle development time may comprise a valuable strategy for favouring biological control by natural enemies of this pest; for example, as a result of extending the vulnerability window of larvae to attack by parasitoids.
Rural Second Homes: A Narrative of De‐Centralisation
Authors: Ellingsen Winfried 
Published: April 2016

AbstractThe dominant political narrative in Norway over the past half century maintains that the country is facing major challenges due to centralisation and urbanisation of the population. Responding to this assumption, this article argues that a significant segment of the population is in fact spending more time in rural areas when we consider the impact of second home mobility. This argument is based on a theoretical review of the ontological trajectories of settlement and mobility. Set in a rural‐urban perspective, it addresses key demographic trends contrasting the sedentarist perspective for the registration of the population with the alternative view of time spent in rural locations. Based on the scope of the demographic shift and the apparent limitations of registration, it is argued that second home mobility re‐assembles the rural in demographic as well as economic terms and should therefore be an integral part of studies of rural development.
Enteric glia: the most alimentary of all glia
Authors: Grubišić Vladimir , Gulbransen Brian D. 
Published: April 2016

AbstractGlia (from Greek γλοία meaning ‘glue’) pertains to non‐neuronal cells in the central (CNS) and peripheral nervous system (PNS) that nourish neurons and maintain homeostasis. In addition, glia are now increasingly appreciated as active regulators of numerous physiological processes initially considered exclusively under neuronal regulation. For instance, enteric glia, a collection of glial cells residing within the walls of the intestinal tract, regulate intestinal motility, a well‐characterized reflex controlled by enteric neurons. Enteric glia also interact with various non‐neuronal cell types in the gut wall such as enterocytes, enteroendocrine and immune cells and are therefore emerging as important local regulators of diverse gut functions. The intricate molecular mechanisms that govern glia‐mediated regulation are beginning to be discovered, but much remains unknown about the functions of enteric glia in health and disease. Here we present a current view of the enteric glia and their regulatory roles in gastrointestinal (GI) (patho)physiology; from GI motility and epithelial barrier function to enteric neuroinflammation.
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Does rapid and physiological astrocyte–neuron signalling amplify epileptic activity?
Authors: Henneberger Christian 
Published: April 2016

AbstractThe hippocampus is a key brain region in the pathophysiology of mesial temporal lobe epilepsy. Long‐term changes of its architecture and function on the network and cellular level are well documented in epilepsy. Astrocytes can control many aspects of neuronal function and their long‐term alterations over weeks, months and years play an important role in epilepsy. However, a pathophysiological transformation of astrocytes does not seem to be required for astrocytes to contribute to epileptic activity. Some of the properties of physiological astrocyte–neuron communication could allow these cells to exacerbate or synchronize neuronal firing on shorter time scales of milliseconds to minutes. Therefore, these astrocyte–neuron interactions are increasingly recognized as potential contributors to epileptic activity. Fast and reciprocal communication between astrocytes and neurons is enabled by a diverse set of mechanisms that could both amplify and counteract epileptic activity. They may thus promote or cause development of epileptic activity or inhibit it. Mechanisms of astrocyte–neuron interactions that can quickly increase network excitability involve, for example, astrocyte Ca2+ and Na+ signalling, K+ buffering, gap junction coupling and metabolism. However, rapid changes of astrocyte neurotransmitter uptake and morphology may also underlie or support development of network hyperexcitability. The temporal characteristics of these interactions, their ability to synchronize neuronal activity and their net effect on network activity will determine their contribution to the emergence or maintenance of epileptic activity.
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Genotypic and Phenotypic Markers of Livestock-Associated Methicillin-Resistant Staphylococcus aureus CC9 in Humans
Authors: Ye Xiaohua , Wang Xiaolin , Fan Yanping , Peng Yang , Li Ling , Li Shunming , Huang Jingya , Yao Zhenjiang , Chen Sidong 
Published: April 2016

ABSTRACT

Use of antimicrobials in industrial food animal production is associated with the presence of multidrug-resistant
Staphylococcus aureus
among animals and humans. The livestock-associated (LA) methicillin-resistant
S. aureus
(MRSA) clonal complex 9 (CC9) is associated with animals and related workers in Asia. This study aimed to explore the genotypic and phenotypic markers of LA-MRSA CC9 in humans. We conducted a cross-sectional study of livestock workers and controls in Guangdong, China. The study participants responded to a questionnaire and provided a nasal swab for
S. aureus
analysis. The resulting isolates were assessed for antibiotic susceptibility, multilocus sequence type, and immune evasion cluster (IEC) genes. Livestock workers had significantly higher rates of
S. aureus
CC9 (odds ratio [OR] = 30.98; 95% confidence interval [CI], 4.06 to 236.39) and tetracycline-resistant
S. aureus
(OR = 3.26; 95% CI, 2.12 to 5.00) carriage than controls. All 19
S. aureus
CC9 isolates from livestock workers were MRSA isolates and also exhibited the characteristics of resistance to several classes of antibiotics and absence of the IEC genes. Notably, the interaction analyses indicated phenotype-phenotype (OR = 525.7; 95% CI, 60.0 to 4,602.1) and gene-environment (OR = 232.3; 95% CI, 28.7 to 1,876.7) interactions associated with increased risk for livestock-associated
S. aureus
CC9 carriage. These findings suggest that livestock-associated
S. aureus
and MRSA (CC9, IEC negative, and tetracycline resistant) in humans are associated with occupational livestock contact, raising questions about the potential for occupational exposure to opportunistic
S. aureus
.

IMPORTANCE
This study adds to existing knowledge by giving insight into the genotypic and phenotypic markers of LA-MRSA. Our findings suggest that livestock-associated
S. aureus
and MRSA (CC9, IEC negative, and tetracycline resistant) in humans are associated with occupational livestock contact. Future studies should direct more attention to exploring the exact transmission routes and establishing measures to prevent the spread of LA-MRSA.
Springing into Action: Reg2 Negatively Regulates Snf1 Protein Kinase and Facilitates Recovery from Prolonged Glucose Starvation in Saccharomyces cerevisiae
Authors: Maziarz Marcin , Shevade Aishwarya , Barrett LaKisha , Kuchin Sergei 
Published: April 2016

ABSTRACT

Glucose is the preferred carbon source for the yeast
Saccharomyces cerevisiae
. Glucose limitation activates Snf1 protein kinase, a key regulator of energy homeostasis that promotes utilization of alternative carbon sources and enforces energy conservation. Snf1 activation requires phosphorylation of its T-loop threonine (Thr210) by upstream kinases. When glucose is abundant, Snf1 is inhibited by Thr210 dephosphorylation. This involves the function of the type 1 protein phosphatase Glc7, which is targeted to Snf1 by a regulatory subunit, Reg1. The
reg1
mutation causes increased Snf1 activity and mimics various aspects of glucose limitation, including slower growth. Reg2 is another Glc7 regulatory subunit encoded by a paralogous gene,
REG2
. Previous evidence indicated that the
reg2
mutation exacerbates the Snf1-dependent slow-growth phenotype caused by
reg1
, suggesting a link between Reg2 and Snf1. Here, we explore this link in more detail and present evidence that Reg2 contributes to Snf1 Thr210 dephosphorylation. Consistent with this role, Reg2 interacts with wild-type Snf1 but not with nonphosphorylatable Snf1-T210A. Reg2 accumulation increases in a Snf1-dependent manner during prolonged glucose deprivation, and glucose-starved cells lacking Reg2 exhibit delayed Snf1 Thr210 dephosphorylation and slower growth recovery upon glucose replenishment. Accordingly, cells lacking Reg2 are outcompeted by wild-type cells in the course of several glucose starvation/replenishment cycles. Collectively, our results support a model in which Reg2-Glc7 contributes to the negative control of Snf1 in response to glucose refeeding after prolonged starvation. The competitive growth advantage provided by Reg2 underscores the evolutionary significance of this paralog for
S. cerevisiae
.

IMPORTANCE
The ability of microorganisms to respond to stress is essential for their survival. However, rapid recovery from stress could be equally crucial in competitive environments. Therefore, a wise stress response program should prepare cells for quick recovery upon reexposure to favorable conditions. Glucose is the preferred carbon source for the yeast
S. cerevisiae
. Glucose depletion activates the stress response protein kinase Snf1, which functions to limit energy-consuming processes, such as growth. We show that prolonged glucose deprivation also leads to Snf1-dependent accumulation of Reg2 and that this protein helps to inhibit Snf1 and to accelerate growth recovery upon glucose replenishment. Cells lacking Reg2 are readily outcompeted by wild-type cells during glucose depletion/replenishment cycles. Thus, while prolonged glucose deprivation might seem to put yeast cells “on their knees,” concomitant accumulation of Reg2 helps configure the cells into a “sprinter's crouch start position” to spring into action once glucose becomes available.
Identification of a Polyketide Synthase Involved in Sorbicillin Biosynthesis by Penicillium chrysogenum
Authors: Salo Oleksandr , Guzmán-Chávez Fernando , Ries Marco I. , Lankhorst Peter P. , Bovenberg Roel A. L. , Vreeken Rob J. , Driessen Arnold J. M. 
Published: April 2016

ABSTRACT

Secondary metabolism in
Penicillium chrysogenum
was intensively subjected to classical strain improvement (CSI), the resulting industrial strains producing high levels of β-lactams. During this process, the production of yellow pigments, including sorbicillinoids, was eliminated as part of a strategy to enable the rapid purification of β-lactams. Here we report the identification of the polyketide synthase (PKS) gene essential for sorbicillinoid biosynthesis in
P. chrysogenum
. We demonstrate that the production of polyketide precursors like sorbicillinol and dihydrosorbicillinol as well as their derivatives bisorbicillinoids requires the function of a highly reducing PKS encoded by the gene
Pc21g05080
(
pks13
). This gene belongs to the cluster that was mutated and transcriptionally silenced during the strain improvement program. Using an improved β-lactam-producing strain, repair of the mutation in
pks13
led to the restoration of sorbicillinoid production. This now enables genetic studies on the mechanism of sorbicillinoid biosynthesis in
P. chrysogenum
and opens new perspectives for pathway engineering.

IMPORTANCE
Sorbicillinoids are secondary metabolites with antiviral, anti-inflammatory, and antimicrobial activities produced by filamentous fungi. This study identified the gene cluster responsible for sorbicillinoid formation in
Penicillium chrysogenum
, which now allows engineering of this diverse group of compounds.
Enhancing the Sweetness of Yoghurt through Metabolic Remodeling of Carbohydrate Metabolism in Streptococcus thermophilus and Lactobacillus delbrueckii subsp. bulgaricus
Authors: Sørensen Kim I. , Curic-Bawden Mirjana , Junge Mette P. , Janzen Thomas , Johansen Eric 
Published: April 2016

ABSTRACTStreptococcus thermophilusandLactobacillus delbrueckiisubsp.bulgaricusare used in the fermentation of milk to produce yoghurt. These species normally metabolize only the glucose moiety of lactose, secreting galactose and producing lactic acid as the main metabolic end product. We used multiple serial selection steps to isolate spontaneous mutants of industrial strains ofS. thermophilusandL. delbrueckiisubsp.bulgaricusthat secreted glucose rather than galactose when utilizing lactose as a carbon source. Sequencing revealed that theS. thermophilusstrains had mutations in thegalKTEMpromoter, the glucokinase gene, and genes encoding elements of the glucose/mannose phosphotransferase system (PTS). These strains metabolize galactose but are unable to phosphorylate glucose internally or via the PTS. TheL. delbrueckiisubsp.bulgaricusmutants had mutations in genes of the glucose/mannose PTS and in the pyruvate kinase gene. These strains cannot grow on exogenous glucose but are proficient at metabolizing internal glucose released from lactose by β-galactosidase. The resulting strains can be combined to ferment milk, producing yoghurt with no detectable lactose, moderate levels of galactose, and high levels of glucose. Since glucose tastes considerably sweeter than either lactose or galactose, the sweetness of the yoghurt is perceptibly enhanced. These strains were produced without the use of recombinant DNA technology and can be used for the industrial production of yoghurt with enhanced intrinsic sweetness and low residual levels of lactose.IMPORTANCEBased on a good understanding of the physiology of the lactic acid bacteriaStreptococcus thermophilusandLactobacillus delbrueckiisubsp.bulgaricus, we were able, by selecting spontaneously occurring mutants, to change dramatically the metabolic products secreted into the growth medium. These mutants consume substantially more of the lactose, metabolize some of the galactose, and secrete the remaining galactose and most of the glucose back into the milk. This allows production of yoghurt with very low lactose levels and enhanced natural sweetness, because humans perceive glucose as sweeter than either lactose or galactose.
Virulence Gene Profiles and Clonal Relationships of Escherichia coli O26:H11 Isolates from Feedlot Cattle as Determined by Whole-Genome Sequencing
Authors: Gonzalez-Escalona Narjol , Toro Magaly , Rump Lydia V. , Cao Guojie , Nagaraja T. G. , Meng Jianghong 
Published: April 2016

ABSTRACT

Escherichia coli
O26 is the second most important enterohemorrhagic
E. coli
(EHEC) serogroup worldwide. Serogroup O26 strains are categorized mainly into two groups: enteropathogenic (EPEC) O26, carrying a locus of enterocyte effacement (LEE) and mostly causing mild diarrhea, and Shiga-toxigenic (STEC) O26, which carries the Shiga toxin (STX) gene (
stx
), responsible for more severe outcomes.
stx
-negative O26 strains can be further split into two groups. One O26 group differs significantly from O26 EHEC, while the other O26 EHEC-like group shows all the characteristics of EHEC O26 except production of STX. In order to determine the different populations of O26
E. coli
present in U.S. cattle, we sequenced 42 O26:H11 strains isolated from feedlot cattle and compared them to 37 O26:H11 genomes available in GenBank. Phylogenetic analysis by whole-genome multilocus sequence typing (wgMLST) showed that O26:H11/H
−
strains in U.S. cattle were highly diverse. Most strains were sequence type 29 (ST29). By wgMLST, two clear lineages could be distinguished among cattle strains. Lineage 1 consisted of O26:H11 EHEC-like strains (ST29) (4 strains) and O26:H11 EHEC strains (ST21) (2 strains), and lineage 2 (36 strains) consisted of O26:H11 EPEC strains (ST29). Overall, our analysis showed U.S. cattle carried pathogenic (ST21;
stx
1
+
ehxA
+
toxB
+
) and also potentially pathogenic (ST29;
ehxA

+

toxB

+

) O26:H11
E. coli
strains. Furthermore,
in silico
analysis showed that 70% of the cattle strains carried at least one antimicrobial resistance gene. Our results showed that whole-genome sequence analysis is a robust and valid approach to identify and genetically characterize
E. coli
O26:H11, which is of importance for food safety and public health.

IMPORTANCE
Escherichia coli
O26 is the second most important type of enterohemorrhagic
E. coli
(EHEC) worldwide. Serogroup O26 strains are categorized into two groups: enteropathogenic (EPEC) carrying LEE, causing mild diarrhea, and Shiga toxigenic (STEC) carrying the
stx
gene, responsible for more severe outcomes. However, there are currently problems in distinguishing one group from the other. Furthermore, several O26
stx
-negative strains are consistently misidentified as either EHEC-like or EPEC. The use of whole-genome sequence (WGS) analysis of O26 strains from cattle in the United States (i) allowed identification of O26 strains present in U.S. cattle, (ii) determined O26 strain diversity, (iii) solved the misidentification problem, and (iv) screened for the presence of antimicrobial resistance and virulence genes in the strains. This study provided a framework showing how to easily and rapidly use WGS information to identify and genetically characterize
E. coli
O26:H11, which is important for food safety and public health.
Biomagnetic Recovery and Bioaccumulation of Selenium Granules in Magnetotactic Bacteria
Authors: Tanaka Masayoshi , Knowles William , Brown Rosemary , Hondow Nicole , Arakaki Atsushi , Baldwin Stephen , Staniland Sarah , Matsunaga Tadashi 
Published: April 2016

ABSTRACT

Using microorganisms to remove waste and/or neutralize pollutants from contaminated water is attracting much attention due to the environmentally friendly nature of this methodology. However, cell recovery remains a bottleneck and a considerable challenge for the development of this process. Magnetotactic bacteria are a unique group of organisms that can be manipulated by an external magnetic field due to the presence of biogenic magnetite crystals formed within their cells. In this study, we demonstrated an account of accumulation and precipitation of amorphous elemental selenium nanoparticles within magnetotactic bacteria alongside and independent of magnetite crystal biomineralization when grown in a medium containing selenium oxyanion (SeO
3
2−
). Quantitative analysis shows that magnetotactic bacteria accumulate the largest amount of target molecules (Se) per cell compared with any other previously reported nonferrous metal/metalloid. For example, 2.4 and 174 times more Se is accumulated than Te taken up into cells and Cd
2+
adsorbed onto the cell surface, respectively. Crucially, the bacteria with high levels of Se accumulation were successfully recovered with an external magnetic field. The biomagnetic recovery and the effective accumulation of target elements demonstrate the potential for application in bioremediation of polluted water.

IMPORTANCE
The development of a technique for effective environmental water remediation is urgently required across the globe. A biological remediation process of waste removal and/or neutralization of pollutant from contaminated water using microorganisms has great potential, but cell recovery remains a bottleneck. Magnetotactic bacteria synthesize magnetic particles within their cells, which can be recovered by a magnetic field. Herein, we report an example of accumulation and precipitation of amorphous elemental selenium nanoparticles within magnetotactic bacteria independent of magnetic particle synthesis. The cells were able to accumulate the largest amount of Se compared to other foreign elements. More importantly, the Se-accumulating bacteria were successfully recovered with an external magnetic field. We believe magnetotactic bacteria confer unique advantages of biomagnetic cell recovery and of Se accumulation, providing a new and effective methodology for bioremediation of polluted water.