Novel mechanism of Col10a1 nonsense-mediated mRNA decay

Nonsense-mediated mRNA decay (NMD) is a conserved surveillance mechanism that selectively targets mRNA transcripts carrying premature termination codons (PTCs) for rapid degradation in all studied eukaryotes. Mutations that introduce PTCs account for approximately one-third of all inherited genetic disorders, highlighting the importance of NMD in the molecular pathology of many diseases.
The experimental findings presented in this thesis demonstrate that the mechanism of Col10a1 NMD is different to previously described NMD pathways and could represent a failsafe NMD mechanism used by genes that have similar gene structures to COL10A1, which would escape the canonical NMD pathway.

Performative accountability and early childhood teaching

This paper reports on the findings from a PhD study that investigated influences affecting early childhood teacher decision making at the preschool level in Victoria, Australia. A critical discourse analysis of preschool teacher interviews and curricula related policies found that developmentally appropriate practice was a dominant discourse influencing teacher decision making and, despite no government-mandated curricula framework at the time, teachers were held accountable for their curricula practice. Critical theory was the underpinning framework used for the study and it enabled taken-for-granted understandings to be uncovered within early childhood policies and teacher interviews. The concepts of power, authority, and accountability were examined in policy and in interview transcripts, and subsequently, various forms of control and obligation were brought to the forefront.

J-Circos: an interactive Circos plotter

Circos plots are graphical outputs that display three dimensional chromosomal interactions and fusion transcripts. However, the Circos plot tool is not an interactive visualization tool, but rather a figure generator. For example, it does not enable data to be added dynamically nor does it provide information for specific data points interactively. Recently, an R-based Circos tool (RCircos) has been developed to integrate Circos to R, but similarly, Rcircos can only be used to generate plots. Thus, we have developed a Circos plot tool (J-Circos) that is an interactive visualization tool that can plot Circos figures, as well as being able to dynamically add data to the figure, and providing information for specific data points using mouse hover display and zoom in/out functions. J-Circos uses the Java computer language to enable, it to be used on most operating systems (Windows, MacOS, Linux). Users can input data into J-Circos using flat data formats, as well as from the Graphical user interface (GUI). J-Circos will enable biologists to better study more complex chromosomal interactions and fusion transcripts that are otherwise difficult to visualize from next-generation sequencing data. Availability and implementation: J-circos and its manual are freely available at http://www.australianprostatecentre.org/research/software/jcircos CONTACT: j.an@qut.edu.au Supplementary information: Supplementary data are available at Bioinformatics online.

Police officers' perceptions of interviewing offenders on sex offender registries

Police interviews with offenders form an important component of the sex offender registry monitoring process. This study provides an analysis of police professionals’ perceptions of the benefits and process of interviewing offenders on sex offender registries. Participants were a heterogeneous sample of 24 Australian police personnel whose roles were primarily associated with the operation of sex offender registries across three different jurisdictions. Participants’ perceptions of sex offender registry interviews were elicited using non-directive prompts in focus groups of between two and five officers. Transcripts of these focus groups were analysed andkey themes identified. Reported benefits related to the identification and correction of misunderstandings about registry requirements and elicitation of information to assist ongoing management and investigation of new offences. Further, establishing a sound relationship enabled proactive support of the offender in his/her attempt not to re-offend. Interview procedures emphasised the importance of genuine engagement and a relationship based on trust. The findings highlighted several challenges to interviewing and directions for further training, support and research. Participants’ responses underscore the significant role that interviews play in the effective implementation of sex offender registries and emphasise the need for successful engagement of offenders during these interviews to improve the utility of registry schemes. This was the first study to examine the strengths and challenges of interviewing offenders on the registry from a policing perspective.

Urea-based osmoregulation in the developing embryo of oviparous cartilaginous fish (Callorhinchus milii) : contribution of the extraembryonic yolk sac during the early developmental period

Marine cartilaginous fish retain a high concentration of urea to maintain the plasma slightly hyperosmotic to the surrounding seawater. In adult fish, urea is produced by hepatic and extrahepatic ornithine urea cycles (OUCs). However, little is known about the urea retention mechanism in developing cartilaginous fish embryos. In order to address the question as to the mechanism of urea-based osmoregulation in developing embryos, the present study examined the gene expression profiles of OUC enzymes in oviparous holocephalan elephant fish (Callorhinchus milii) embryos. We found that the yolk sac membrane (YSM) makes an important contribution to the ureosmotic strategy of the early embryonic period. The expression of OUC enzyme genes was detectable in the embryonic body from at least stage 28, and increased markedly during development to hatching, which is most probably due to growth of the liver. During the early developmental period, however, the expression of OUC enzyme genes was not prominent in the embryonic body. Meanwhile, we found that the mRNA expression of OUC enzymes was detected in the extra-embryonic YSM; the mRNA expression of cmcpsIII in the YSM was much higher than that in the embryonic body during stages 28-31. Significant levels of enzyme activity and the existence of mitochondrial-type cmgs1 transcripts in the YSM supported the mRNA findings. We also found that the cmcpsIII transcript is localized in the vascularized inner layer of the YSM. Taken together, our findings demonstrate for the first time that the YSM is involved in urea-based osmoregulation during the early to mid phase of development in oviparous cartilaginous fish.

Mothers' perceptions of Melbourne InFANT Program : informing future practice

Intervention programs to prevent childhood obesity are more likely to be successful when mothers are involved and engaged. Yet programs that involve mothers do not often employ process evaluation to identify aspects of the intervention that participants enjoyed or viewed as useful. The aims of this study were to describe how participants of the Melbourne InFANT Program-an early childhood obesity prevention intervention-engaged in the program and perceived its usefulness. Process evaluation data were collected at multiple time points during and after the intervention, using mixed methods drawing upon both quantitative and qualitative data. Results from short surveys (n = 271) and interview transcripts (n = 26) revealed that the Melbourne InFANT Program was perceived as useful and relevant by most (82-93%) participants. The formats through which the knowledge and skills were delivered were considered concise and effective, and aspects considered particularly useful included group sessions and advice on practical strategies to minimize stress around mealtimes. Findings from this study are important to inform future practice and the development of interventions which are well received by participants.

An examination of "don't know" responses in forensic interviews with children

Most experimental studies examining the use of pre-interview instructions (ground rules) show that children say "I don't know" more often when they have been encouraged to do so when appropriate. However, children's "don't know" responses have not been studied in more applied contexts, such as in investigative interviews. In the present study, 76 transcripts of investigative interviews with allegedly abused children revealed patterns of "don't know" responding, as well as interviewers' reactions to these responses. Instructions to say "I don't know" when appropriate did not affect the frequency with which children gave these responses. Interviewers rejected "don't know" responses nearly 30% of the time, and typically continued to ask about the same topic using more risky questions. Children often answered these follow-up questions even though they had previously indicated that they lacked the requested information. There was no evidence that "don't know" responses indicated reluctance to talk about abuse. Implications for forensic interviewers are discussed.

Regulation of HbPIP2;3, a latex-abundant water transporter, is associated with latex dilution and yield in the rubber tree (Hevea brasiliensis Muell. Arg.)

Rubber tree (Hevea brasiliensis) latex, the source of natural rubber, is synthesised in the cytoplasm of laticifers. Efficient water inflow into laticifers is crucial for latex flow and production since it is the determinant of the total solid content of latex and its fluidity after tapping. As the mature laticifer vessel rings are devoid of plasmodesmata, water exchange between laticifers and surrounding cells is believed to be governed by plasma membrane intrinsic proteins (PIPs). To identify the most important PIP aquaporin in the water balance of laticifers, the transcriptional profiles of ten-latex-expressed PIPs were analysed. One of the most abundant transcripts, designated HbPIP2;3, was characterised in this study. When tested in Xenopus laevis oocytes HbPIP2;3 showed a high efficiency in increasing plasmalemma water conductance. Expression analysis indicated that the HbPIP2;3 gene was preferentially expressed in latex, and the transcripts were up-regulated by both wounding and exogenously applied Ethrel (a commonly-used ethylene releaser). Although regular tapping up-regulated the expression of HbPIP2;3 during the first few tappings of the virginal rubber trees, the transcriptional kinetics of HbPIP2;3 to Ethrel stimulation in the regularly tapped tree exhibited a similar pattern to that of the previously reported HbPIP2;1 in the virginal rubber trees. Furthermore, the mRNA level of HbPIP2;3 was associated with clonal yield potential and the Ethrel stimulation response. Together, these results have revealed the central regulatory role of HbPIP2;3 in laticifer water balance and ethylene stimulation of latex production in Hevea.

Ongoing challenges responding to behavioural and psychological symptoms of dementia

BACKGROUND: Mid- to late-stage dementia is often characterized by behavioural and psychological symptoms, including, but not limited to physical and verbal aggression. INTRODUCTION: Although there is a considerable research about the prevalence, aetiology, and management of behavioural and psychological symptoms of dementia, there is limited research about the experience of caring for people with such symptoms in long-term aged care facilities. AIM: The aims of the study were to describe: (i) nurses' experiences of caring for people with behavioural and psychological symptoms of dementia in long-term aged care facilities, and (ii) strategies nurses used to deal with these symptoms. METHODS: A qualitative exploratory and descriptive design, involving focus group interviews with 30 nurses from three long-term aged care units in Australia. The transcripts were analysed using inductive content analysis. RESULTS: The findings revealed five interrelated themes: (i) working under difficult conditions, (ii) behavioural and psychological symptoms of dementia: an everyday encounter, (iii) making sense of behavioural and psychological symptoms of dementia, (iv) attempting to manage behavioural and psychological symptoms of dementia, and (v) feeling undervalued. CONCLUSION: This study highlighted the difficult conditions under which nurses worked and the complexity of caring for individuals who have behavioural and psychological symptoms of dementia. IMPLICATIONS FOR NURSING AND HEALTH POLICY: Organizational efforts to enhance the quality of care for individuals with behavioural and psychological symptoms of dementia in long-term aged care facilities should extend beyond staff education to heed nurses' concerns about organizational barriers to interpersonal care.

Mechanisms and treatment of cardiac atrophy secondary to cancer cachexia

 This project found that oxidative stress and activation of pro-inflammatory molecules is a feature of heart protein loss secondary to cancer wasting. Treatment with an omega-3 fatty acid is able to protect against heart muscle loss in cancer by reducing gene transcripts of both pro-inflammatory and oxidative molecules.

A framework for primary teachers’ perceptions of mathematical reasoning

Mathematical reasoning has been emphasised as one of the key proficiencies for mathematics in the Australian curriculum since 2011 and in the Canadian curriculum since 2007. This study explores primary teachers’ perceptions of mathematical reasoning at a time of further curriculum change. Twenty-four primary teachers from Canada and Australia were interviewed after engagement in the first stage of the Mathematical Reasoning Professional Learning Program incorporating demonstration lessons focused on reasoning conducted in their schools. Phenomenographic analysis of interview transcripts exploring variation in the perceptions of mathematical reasoning held by these teachers revealed seven categories of description based on four dimensions of variation. The categories delineate the different perceptions of mathematical reasoning expressed by the participants of this study. The resulting outcome space establishes a framework that facilitates tracking of growth in primary teachers’ awareness of aspects of mathematical reasoning.

A model for lesbian, bisexual and queer-related influences on alcohol consumption and implications for policy and practice

Research consistently reports higher rates of problematic drinking among lesbian, bisexual and queer women than among heterosexual women, but relatively little research has identified underlying factors. Within this context, the aim of the present study was to qualitatively explore the sociocultural influences on alcohol consumption among lesbian, bisexual and queer women in Australia. An ethnographic study including in-depth interviews and 10 sessions of participant observation was conducted with 25 Australian lesbian, bisexual and queer women. Analysis of transcripts and fieldnotes focused on lesbian, bisexual and queer-related influences on alcohol consumption. Three lesbian, bisexual and queer-related factors were identified that influenced alcohol use: (1) coping, (2) connection and (3) intersections with lesbian, bisexual and queer identity. Most participants reported consuming alcohol to cope with discrimination or to connect with like-minded others. Alcohol use had positive influences for some women through facilitating social connection and wellbeing. Women with a high lesbian, bisexual and queer identity salience were more likely to seek lesbian, bisexual and queer community connection involving alcohol, to publicly identify as lesbian, bisexual and queer and to experience discrimination. National policies need to address underlying causes of discrimination against lesbian, bisexual and queer women. Alcohol policies and clinical interventions should acknowledge the impact of discrimination on higher alcohol consumption amongst lesbian, bisexual and queer women compared with heterosexual women, and should utilise health promotion messages regarding safe drinking that facilitate lesbian, bisexual and queer social connection.

Characterization of antibody V segment diversity in the Tasmanian devil (Sarcophilus harrisii)

The Tasmanian devil (Sarcophilus harrisii) immune system has recently been under scrutiny because of the emergence of a contagious cancer, which has decimated devil numbers. Here we provide a comprehensive description of the Tasmanian devil immunoglobulin variable regions. We show that heavy chain variable (VH) and light chain variable (VL) repertoires are similar to those described in other marsupial taxa: VL diversity is high, but VH diversity is restricted and belongs only to clan III. As in other mammals, one VH and one Vλ germline family and multiple incomplete Vκ germline sequences were identified in the genome. High Vκ variation was observed in transcripts and we predict that it may have arisen by gene conversion and/or somatic mutations, as it does not appear to have originated from germline variation. Phylogenetic analyses revealed that devil VL gene segments are highly complex and ancient, with some lineages predating the separation of marsupials and eutherians. These results indicate that although the evolutionary history of immune genes lead to the expansions and contractions of immune gene families between different mammalian lineages, some of the ancestral immune gene variants are still maintained in extant species. A high degree of similarity was found between devil and other marsupial VH segments, demonstrating that they originated from a common clade of closely related sequences. The VL families had a higher variation than VH both between and within species. We suggest that, similar to other studied marsupial species, the complex VL segment repertoire compensates for the limited VH diversity in Tasmanian devils.

Vibration mechanosignals superimposed to resistive exercise result in baseline skeletal muscle transcriptome profiles following chronic disuse in bed rest

Disuse-induced muscle atrophy is a major concern in aging, in neuromuscular diseases, post-traumatic injury and in microgravity life sciences affecting health and fitness also of crew members in spaceflight. By using a laboratory analogue to body unloading we perform for the first time global gene expression profiling joined to specific proteomic analysis to map molecular adaptations in disused (60 days of bed rest) human soleus muscle (CTR) and in response to a resistive exercise (RE) countermeasure protocol without and with superimposed vibration mechanosignals (RVE). Adopting Affymetrix GeneChip technology we identified 235 differently transcribed genes in the CTR group (end-vs. pre-bed rest). RE comprised 206 differentially expressed genes, whereas only 51 changed gene transcripts were found in RVE. Most gene transcription and proteomic changes were linked to various key metabolic pathways (glycolysis, oxidative phosphorylation, tricarboxylic acid (TCA) cycle, lipid metabolism) and to functional contractile structures. Gene expression profiling in bed rest identified a novel set of genes explicitly responsive to vibration mechanosignals in human soleus. This new finding highlights the efficacy of RVE protocol in reducing key signs of disuse maladaptation and atrophy, and to maintain a close-to-normal skeletal muscle quality outcome following chronic disuse in bed rest.

The impact on family functioning of social media use by depressed adolescents: a qualitative analysis of the family options study

BACKGROUND: Adolescent depression is a prevalent mental health problem, which can have a major impact on family cohesion. In such circumstances, excessive use of the Internet by adolescents may exacerbate family conflict and lack of cohesion. The current study aims to explore these patterns within an intervention study for depressed adolescents.

METHOD: The current study draws upon data collected from parents within the family options randomized controlled trial that examined family based interventions for adolescent depression (12-18 years old) in Melbourne, Australia (2012-2014). Inclusion in the trial required adolescents to meet diagnostic criteria for a major depressive disorder via the Structured Clinical Interview for DSM-IV Childhood Disorders. The transcripts of sessions were examined using qualitative thematic analysis. The transcribed sessions consisted of 56 h of recordings in total from 39 parents who took part in the interventions.

RESULTS: The thematic analysis explored parental perceptions of their adolescent's use of social media (SM) and access to Internet content, focusing on the possible relationship between adolescent Internet use and the adolescent's depressive disorder. Two overarching themes emerged as follows: the sense of loss of parental control over the family environment and parents' perceived inability to protect their adolescent from material encountered on the Internet and social interactions via SM.

CONCLUSION: Parents within the context of family based treatments felt that prolonged exposure to SM exposed their already vulnerable child to additional stressors and risks. The thematic analysis uncovered a sense of parental despair and lack of control, which is consistent with their perception of SM and the Internet as relentless and threatening to their parental authority and family cohesion.