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Methods to infer dense genomic information from sparsely genotyped populations. Prediction of phenotype based on DNA polymorphisms or sequence has important applications such as prediction of disease risk in human medicine and prediction of genetic value in plant or animal breeding. This project will enhance precision and lower the cost of association studies leading to substantial increase in accuracy of such predictions. This will allow more effective genetic improvement, particularly of diff ....Methods to infer dense genomic information from sparsely genotyped populations. Prediction of phenotype based on DNA polymorphisms or sequence has important applications such as prediction of disease risk in human medicine and prediction of genetic value in plant or animal breeding. This project will enhance precision and lower the cost of association studies leading to substantial increase in accuracy of such predictions. This will allow more effective genetic improvement, particularly of difficult but important traits such as disease resistance, reduced green-house gas emissions and product quality. The same methods can be extended to improve genetic improvement in plants and better prediction of human disease risk. Read moreRead less
Estimating genotype-environment interaction using genomic information. This project aims to develop statistical methods that can explore genotype–environment interaction at the genomic level using genome-wide single nucleotide polymorphisms or sequence data. It plans to estimate how the effects of genetic variants change with changing environmental conditions and how overall genetic variance changes due to changing effects in specific gene regions. It plans to deliver statistical models and meth ....Estimating genotype-environment interaction using genomic information. This project aims to develop statistical methods that can explore genotype–environment interaction at the genomic level using genome-wide single nucleotide polymorphisms or sequence data. It plans to estimate how the effects of genetic variants change with changing environmental conditions and how overall genetic variance changes due to changing effects in specific gene regions. It plans to deliver statistical models and methods and an efficient algorithm implemented in software, which would broadly benefit the field of complex trait genetics. Methods to estimate genotype–environment interaction effects at the genomic level would help elucidate complex biological systems, including human genetic response to changing environmental factors and the potential adaptation of animals to changing environmental conditions.Read moreRead less
Genome-wide determination of Puccinia psidii s.l. rust resistance in eucalypts. Recently, guava rust was detected in Australia, posing significant risks to native flora, plantations, and timber exports. Scientists from The University of Melbourne and Victorian Department of Primary Industries together with tree breeders, forest growers and forest managers aim to use tree genomics rust resistance breeding to enable management and operational responses and inform policy development.
Improved models to understand the genomic architecture of complex traits. This project aims to improve modelling of the genetics underlying complex traits. The project will develop and test models for using genome-wide genetic data to investigate how much heritability (genetic effect) underlies traits of interest, where it lies in the genome, and how much of it is shared across traits. The new models will be implemented in statistical algorithms in a freely-available software package. This proj ....Improved models to understand the genomic architecture of complex traits. This project aims to improve modelling of the genetics underlying complex traits. The project will develop and test models for using genome-wide genetic data to investigate how much heritability (genetic effect) underlies traits of interest, where it lies in the genome, and how much of it is shared across traits. The new models will be implemented in statistical algorithms in a freely-available software package. This project expects to increase understanding of biological mechanisms, the efficiency of genetic association analyses and the accuracy of genomic prediction, including the effects of interventions. The project will adapt human models to a wider range of organisms, in particular bacteria.Read moreRead less
Rapid evolution via genetic novelty in an invasive social insect. This project aims to determine how introduced Asian honey bee populations in Australia and the Pacific managed to overcome severe genetic bottlenecks to become invasive pests. The project will use advanced molecular techniques to understand rapid evolution at a focal gene that determines fitness in these populations, and to see evolution in action across the genome using a twelve-year timeline of samples. The outcome will be an en ....Rapid evolution via genetic novelty in an invasive social insect. This project aims to determine how introduced Asian honey bee populations in Australia and the Pacific managed to overcome severe genetic bottlenecks to become invasive pests. The project will use advanced molecular techniques to understand rapid evolution at a focal gene that determines fitness in these populations, and to see evolution in action across the genome using a twelve-year timeline of samples. The outcome will be an enhanced capacity to manage new outbreaks of invasive social insects of all kinds via a better understanding of how invasions establish and spread. This should provide significant benefits in the form of protecting Australian agriculture and pollination services from social insect pests.Read moreRead less
The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have sma ....The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have small effects which makes them hard to identify. The fact that a mutation that has a small effect on a complex trait also has a larger effect on a less complex trait may help us to identify the mutation and use it in agriculture or medicine.Read moreRead less
Beyond pineal melatonin: sensing the seasons without the eye. The project will identify the causal connection between seasonal breeding in animals and a recently recognised brain biochemical pathway by applying experimental treatments mimicking seasonal environmental changes in a mutant and wild-type nematode worm model. Through experimentation we will identify useful biological targets that might be manipulated to enhance control of seasonal breeding in managed animals. With better control of r ....Beyond pineal melatonin: sensing the seasons without the eye. The project will identify the causal connection between seasonal breeding in animals and a recently recognised brain biochemical pathway by applying experimental treatments mimicking seasonal environmental changes in a mutant and wild-type nematode worm model. Through experimentation we will identify useful biological targets that might be manipulated to enhance control of seasonal breeding in managed animals. With better control of reproductive output in animals, farmers and managers can increase and/or decrease reproductive output as needed in managed species including livestock and vertebrate pests. This will enhance the use of precious land resources and minimize ecological damage from overbreeding.Read moreRead less
Identifying Novel Genes Causing Cytochrome C Oxidase (COX) Deficiency
Funder
National Health and Medical Research Council
Funding Amount
$426,917.00
Summary
Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the uniqu ....Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the unique mitochondrial DNA we inherit only from our mothers. Many more genes await discovery. This study focuses on the mitochondrial disorder cytochrome c oxidase (COX) deficiency, for which we have diagnosed 80 Australian patients. COX requires 13 separate components to be assembled together in order to work properly, but mutations in the genes encoding these components are not present in most patients. We believe that the most common problems will be in genes involved in assembling the components rather than in the components themselves. We will use a number of methods to pinpoint where in the genome the disease genes are located. A key to our strategy is identifying patients likely to have mutations in the same gene. We have identified two such groups, and will do studies that involving fusing two cell lines together to confirm they have the same disorder. We will then perform genetic mapping to look for regions of similarity in the genome using DNA (SNP) chips. We will test how well the genes in such regions are expressed, whether we can correct the problem in cultured skin cells by introducing a healthy copy of that chromosome, and look for gene mutations. Identifying these genes will allow us to improve future diagnosis and prevention and may allow us to develop new methods of treatment. Milder mitochondrial problems also contribute to a range of more common diseases such as diabetes and Alzheimer disease, so any new treatments could potentially have wide applicationRead moreRead less
New insights into female reproductive tract formation and tubulogenesis. Aims: This project aims to improve our understanding of female reproductive tract formation by studying its developmental origins. Most of the female reproductive tract derives from a pair of embryonic tubes called Müllerian ducts, the formation of which is incompletely understood. Significance: Using chicken and mouse models and innovative genetic approaches, the project will undercover novel genes and cellular pathways in ....New insights into female reproductive tract formation and tubulogenesis. Aims: This project aims to improve our understanding of female reproductive tract formation by studying its developmental origins. Most of the female reproductive tract derives from a pair of embryonic tubes called Müllerian ducts, the formation of which is incompletely understood. Significance: Using chicken and mouse models and innovative genetic approaches, the project will undercover novel genes and cellular pathways in Müllerian duct formation. Expected outcomes: This work will enhance knowledge in the biological sciences, in the area of female reproduction and how tubes form in biological systems. Benefits: It will train research scientists, develop collaborations and enhance Australia’s high standing in the field of reproduction.Read moreRead less