The genetic basis of human height : the role of estrogen

Height is a complex physical trait that displays strong heritability. Adult height is related to length of the long bones, which is determined by growth at the epiphyseal growth plate. Longitudinal bone growth occurs via the process of endochondral ossification, where bone forms over the differentiating cartilage template at the growth plate. Estrogen plays a major role in regulating longitudinal bone growth and is responsible for inducing the pubertal growth spurt and fusion of the epiphyseal growth plate. However, the mechanism by which estrogen promotes epiphyseal fusion is poorly understood. It has been hypothesised that estrogen functions to regulate growth plate fusion by stimulating chondrocyte apoptosis, angiogenesis and bone cell invasion in the growth plate. Another theory has suggested that estrogen exposure exhausts the proliferative capacity of growth plate chondrocytes, which accelerates the process of chondrocyte senescence, leading to growth plate fusion. The overall objective of this study was to gain a greater understanding of the molecular mechanisms behind estrogen-mediated growth and height attainment by examining gene regulation in chondrocytes and the role of some of these genes in normal height inheritance. With the heritability of height so well established, the initial hypothesis was that genetic variation in candidate genes associated with longitudinal bone growth would be involved in normal adult height variation. The height-related genes FGFR3, CBFA1, ER and CBFA1 were screened for novel polymorphisms using denaturing HPLC and RFLP analysis. In total, 24 polymorphisms were identified. Two SNPs in ER (rs3757323 C>T and rs1801132 G>C) were strongly associated with adult male height and displayed an 8 cm and 9 cm height difference between homozygous genotypes, respectively. The TC haplotype of these SNPs was associated with a 6 cm decrease in height and remarkably, no homozygous carriers of the TC haplotype were identified in tall subjects. No significant associations with height were found for polymorphisms in the FGFR3, CBFA1 or VDR genes. In the epiphyseal growth plate, chondrocyte proliferation, matrix synthesis and chondrocyte hypertrophy are all major contributors to long bone growth. As estrogen plays such a significant role in both growth and final height attainment, another hypothesis of this study was that estrogen exerted its effects in the growth plate by influencing chondrocyte proliferation and mediating the expression of chondrocyte marker genes. The examination of genes regulated by estrogen in chondrocyte-like cells aimed to identify potential regulators of growth plate fusion, which may further elucidate mechanisms involved in the cessation of linear growth. While estrogen did not dramatically alter the proliferation of the SW1353 cell line, gene expression experiments identified several estrogen regulated genes. Sixteen chondrocyte marker genes were examined in response to estrogen concentrations ranging from 10-12 M to 10-8 M over varying time points. Of the genes analysed, IHH, FGFR3, collagen II and collagen X were not readily detectable and PTHrP, GHR, ER, BMP6, SOX9 and TGF1 mRNAs showed no significant response to estrogen treatments. However, the expression of MMP13, CBFA1, BCL-2 and BAX genes were significantly decreased. Interestingly, the majority of estrogen regulated genes in SW1353 cells are expressed in the hypertrophic zone of the growth plate. Estrogen is also known to regulate systemic GH secretion and local GH action. At the molecular level, estrogen functions to inhibit GH action by negatively regulating GH signalling. GH treated SW1353 cells displayed increases in MMP9 mRNA expression (4.4-fold) and MMP13 mRNA expression (64-fold) in SW1353 cells. Increases were also detected in their respective proteins. Treatment with AG490, an established JAK2 inhibitor, blocked the GH mediated stimulation of both MMP9 and MMP13 mRNA expression. The application of estrogen and GH to SW1353 cells attenuated GH-stimulated MMP13 levels, but did not affect MMP9 levels. Investigation of GH signalling revealed that SW1353 cells have high levels of activated JAK2 and exposure to GH, estrogen, AG490 and other signalling inhibitors did not affect JAK2 phosphorylation. Interestingly, AG490 treatment dramatically decreased ERK2 signalling, although GH did stimulate ERK2 phosphorylation above control levels. AG490 also decreased CBFA1 expression, a transcription factor known to activate MMP9 and MMP13. Finally, GH and estrogen treatment increased expression of SOCS3 mRNA, suggesting that SOCS3 may regulate JAK/STAT signalling in SW1353 cells. The modulation of GH-mediated MMP expression by estrogen in SW1353 cells represents a potentially novel mechanism by which estrogen may regulate longitudinal bone growth. However, further investigation is required in order to elucidate the precise mechanisms behind estrogen and GH regulation of MMP13 expression in SW1353 cells. This study has provided additional evidence that estrogen and the ER gene are major factors in the regulation of growth and the determination of adult height. Newly identified polymorphisms in the ER gene not only contribute to our understanding of the genetic basis of human height, but may also be useful in association studies examining other complex traits. This study also identified several estrogen regulated genes and indicated that estrogen modifies the expression of genes which are primarily expressed in the hypertrophic region of the epiphyseal growth plate. Furthermore, synergistic studies incorporating GH and estrogen have revealed the ability of estrogen to attenuate the effects of GH on MMP13 expression, revealing potential pathways by which estrogen may modulate growth plate fusion, longitudinal bone growth and even arthritis.

The evolution of a community of practice at the Queensland University of Technology for lecturers involved in large first year units

Communities of practice (CoPs) may be defined as groups of people who are mutually bound by what they do together (Wenger, 1998, p. 2), that is, they “form to share what they know, to learn from one another regarding some aspects of their work and to provide a social context for that work” (Nickols, 2000, para. 1). They are “emergent” in that the shape and membership emerges in the process of activity (Lees, 2005, p. 7). People in CoPs share their knowledge and experiences freely with the purpose of finding inventive ways to approach new problems (Wenger & Snyder, 2000, p. 2). They can be seen as “shared histories of learning” (Wenger, 1998, p. 86). For some time, QUT staff have been involved in a number of initiatives aimed at sharing ideas and resources for teaching first year students such as the Coordinators of Large First Year Units Working Party. To harness these initiatives and maximise their influence, the leaders of the Transitions In Project (TIP)1 decided to form a CoP around the design, assessment and management of large first year units.

Methodologies for investigating relationships between concept development and the development of problem solving abilities

This paper is the second in a pair that Lesh, English, and Fennewald will be presenting at ICME TSG 19 on Problem Solving in Mathematics Education. The first paper describes three shortcomings of past research on mathematical problem solving. The first shortcoming can be seen in the fact that knowledge has not accumulated – in fact it has atrophied significantly during the past decade. Unsuccessful theories continue to be recycled and embellished. One reason for this is that researchers generally have failed to develop research tools needed to reliably observe, document, and assess the development of concepts and abilities that they claim to be important. The second shortcoming is that existing theories and research have failed to make it clear how concept development (or the development of basic skills) is related to the development of problem solving abilities – especially when attention is shifted beyond word problems found in school to the kind of problems found outside of school, where the requisite skills and even the questions to be asked might not be known in advance. The third shortcoming has to do with inherent weaknesses in observational studies and teaching experiments – and the assumption that a single grand theory should be able to describe all of the conceptual systems, instructional systems, and assessment systems that strongly molded and shaped by the same theoretical perspectives that are being used to develop them. Therefore, this paper will describe theoretical perspectives and methodological tools that are proving to be effective to combat the preceding kinds or shortcomings. We refer to our theoretical framework as models & modeling perspectives (MMP) on problem solving (Lesh & Doerr, 2003), learning, and teaching. One of the main methodologies of MMP is called multi-tier design studies (MTD).

Willingness to trial functional foods and vitamin supplements: the role of attitudes, subjective norms, and dread of risks

Australian non-users of vitamin supplements (N = 162) and functional foods (N = 226) responded to a questionnaire examining their attitudes, subjective norms, and perceived behavioural control from the Theory of Planned Behaviour (TPB), risk dread and risk familiarity, and willingness to engage in free product trials. The impact of participants’ gender and age was also examined. Attitude and subjective norms were significant determinants of non-users willingness to trial each of the health products. Participants’ dread of the risk associated with the product was also a determinant of willingness to use functional foods. The overall models predicted between 25% and 30% of the variance in people’s willingness to trial the products. The findings provided some support for the TPB in predicting people’s willingness to trial functional foods and vitamin supplements and suggested, for willingness to trial functional foods, that non-users are also influenced by their dread of the risk associated with product use.

Assessing the impact of streetscape on residential property in lower to middle socio-economic areas

A number of factors have been shown to influence residential property prices in various locations. Studies have identified the importance of location in relation to services, transport and proximity to negative factors such as power lines and cell phone towers. Often the socio-economic status of a residential precinct can determine the overall quality and nature of the streetscapes in that area, with higher value suburbs or locations offering a better visual appearance compared to areas where these factors are not present. However, does the same value for a good streetscape apply in lower socio-economic areas or a buyers more motivated by less aesthetic factors such as size of the house, construction materials or land size. This paper analyses specific streets in a lower to middle socio-economic suburb of Christchurch New Zealand to determine if the location of a house in a street with good streetscape appeal has greater value, investment performance and saleability compared to adjoining streets with less aesthetic appeal.

Tackling the burden of injury in Australasia : developing a binational trauma registry

Existing trauma registries in Australia and New Zealand play an important role in monitoring the management of injured patients. Over the past decade, such monitoring has been translated into changes in clinical processes and practices. Monitoring and changes have been ad hoc, as there are currently no Australasian benchmarks for “optimal” injury management. A binational trauma registry is urgently needed to benchmark injury management to improve outcomes for injured patients.

Seeing is understanding : the effect of visualisation in understanding programming concepts

How and why visualisations support learning was the subject of this qualitative instrumental collective case study. Five computer programming languages (PHP, Visual Basic, Alice, GameMaker, and RoboLab) supporting differing degrees of visualisation were used as cases to explore the effectiveness of software visualisation to develop fundamental computer programming concepts (sequence, iteration, selection, and modularity). Cognitive theories of visual and auditory processing, cognitive load, and mental models provided a framework in which student cognitive development was tracked and measured by thirty-one 15-17 year old students drawn from a Queensland metropolitan secondary private girls’ school, as active participants in the research. Seventeen findings in three sections increase our understanding of the effects of visualisation on the learning process. The study extended the use of mental model theory to track the learning process, and demonstrated application of student research based metacognitive analysis on individual and peer cognitive development as a means to support research and as an approach to teaching. The findings also forward an explanation for failures in previous software visualisation studies, in particular the study has demonstrated that for the cases examined, where complex concepts are being developed, the mixing of auditory (or text) and visual elements can result in excessive cognitive load and impede learning. This finding provides a framework for selecting the most appropriate instructional programming language based on the cognitive complexity of the concepts under study.

Reflection on the 'Landscapes of Rights' Conference, Adelaide, 2009

This article presents a reflective view of three teaching colleagues from Queensland University of Technology, Brisbane who had attended and participated in the 'Landscapes of Rights' Conference in Adelaide, July 2009. The conference is a biennial event run by the Reggio Emilia-Australia Information Exchange. The authors explore and reflect on the provocations posed throughout this conference and consider these in light of their ongoing work in the field of teacher education, of early childhood teaching and as active supporters of children's rights.

The impact of property title type on residential property returns

Residential property in New Zealand comprises both freestanding residential properties and medium to high density residential properties. Medium to high density residential property comprises the typical units, townhouses and semi-detached houses common in most residential property markets. However, in many of the larger cities of New Zealand the free standing residential property market has evolved into two separate markets being freehold residential property and cross lease residential property. Cross leases have developed as a form of infill housing to reduce the urban sprawl in major canters, while reducing the time and cost for residential property developers. A cross lease is created when an existing freestanding residential property subdivides a portion of the existing land for the erection of another house on the original title, basically dividing one larger residential section into two smaller residential blocks. This paper will analyse house prices in Christchurch over the period 1992 to 2006 to determine if the various housing markets have shown similar capital returns or if there is a specific preference for a particular residential property title.

The role of timber plantations in UK Investment portfolios

Although timber plantations and forests are classified as forms of agricultural production, the ownership of this land classification is not limited to rural producers. Timber plantations and forests are now regarded as a long-term investment with both institutional and absentee owners. While the NCREIF property indices have been the benchmarks for the measurement of the performance of the commercial property market in the UK, for many years the IPD timberland index has recently emerged as the U.K. forest and timberland performance indicator. The IPD Forest index incorporates 126 properties over five regions in the U.K. This paper will utilise the IPD Forestry Index to examine the performance of U.K. timber plantations and forests over the period 1981-2004. In particular, issues to be critically assessed include plantation and forest performance analysis, comparative investment analysis, and the role of plantations and forests in investment portfolios, the risk reduction and portfolio benefits of plantations and forests in mixed-asset portfolios and the strategic investment significance of U.K. timberlands.

Legal Issues Relating to the Notification of Australian Data Breaches

Advances in information and communications technologies during the last two decades have allowed organisations to capture and utilise data on a vast scale, thus heightening the importance of adequate measures for protecting unauthorised disclosure of personal information. In this respect, data breach notification has emerged as an issue of increasing importance throughout the world. It has been the subject of law reform in the United States and in other international jurisdictions. Following the Australian Law Reform Commission’s review of privacy, data breach notification will soon be addressed in Australia. This article provides a review of US and Australian legal initiatives regarding the notification of data breaches. The authors highlight areas of concern based on the extant US literature that require specific consideration in Australia regarding the development of an Australian legal framework for the notification of data breaches.

The organisation of action in complex neurobiological systems

This chapter elucidates key ideas behind neurocomputational and ecological dynamics and perspectives of understanding the organisation of action in complex neurobiological systems. The need to study the close link between neurobiological systems and their environments (particularly their sensory and movement subsystems and the surrounding energy sources) is advocated. It is proposed how degeneracy in complex neurobiological systems provides the basis for functional variability in organisation of action. In such systems processes of cognition and action facilitate the specific interactions of each performer with particular task and environmental constraints.

Spaces of care in the third sector : Understanding the effects of professionalization

Increasingly the health and welfare needs of individuals and communities are being met by third sector, or not-for-profit, organizations. Since the 1980s third sector organizations have been subject to significant, sector-wide changes, such as the development of contractual funding and an increasing need to collaborate with governments and other sectors. In particular, the processes of ‘professionalization’ and ‘bureaucratization’ have received significant attention and are now well documented in third sector literature. These processes are often understood to create barriers between organizations and their community groups and neutralize alternative forms of service provision. In this article we provide a case study of an Australian third sector organization undergoing professionalization. The case study draws on ethnographic and qualitative interviews with staff and volunteers at a health-based third sector organization involved in service provision to marginalized community groups. We examine how professionalization alters organizational spaces and dynamics and conclude that professionalized third sector spaces may still be ‘community’ spaces where individuals may give and receive care and services. Moreover, we suggest that these community spaces hold potential for resisting the neutralizing effects of contracting.

The development of decision making skill in sport : An ecological dynamics perspective

In this chapter we introduce a theoretical framework for studying decision making in sport: the ecological dynamics approach, which we integrate with key ideas from the literature on learning complex motor skills. Our analysis will include insights from Berstein (1967) on the coordination of degrees of freedom and Newell's (1985) model of motor learning. We particularly focus on the role of perceptual degrees of freedom advocated in an ecological approach to learning. In introducing this framework to readers we contrast this perspective with more traditional models of decision-making. Finally, we propose some implications to the training of decision-making skill in sport.

Student resources for the use of supervisors

The materials presented here are intended to: a) accompany the document Supervisor Resource and b) provide technology supervisors with materials that may be readily shared with students. These resources are not designed to be distributed to students without contextualization, they are intended for use in workshops or in discussions between supervisors and students. As authors, we anticipate that supervisors or workshop facilitators are most likely to extract individual resources of interest for particular occasions. The materials have been developed from conversations with supervisors from the technology disciplines.