Actin cytoskeleton regulation by E-cadherin and Src. This project examines a fundamental, novel mechanism of how cells work together in tissues. It will provide important new knowledge about how tissues become organized in health, and how organization might be disturbed in disease. It will build Australia's skill base in cutting-edge scientific research, and promote knowledge directed to the research priority area of Promoting and Maintaining Good Health.
How the Y Chromosome makes a male: Molecular genetic analysis of key sex-determining genes. Sex reversal and intersex syndromes are among the most common and highly stigmatized disorders affecting newborn babies. Our research will reveal how the Y chromosome regulates normal male development, identify the steps that go wrong in many male babies, and suggest ways to diagnose and deal with these conditions. It will also pave the way for biotechnological applications in the areas of stem cell techn ....How the Y Chromosome makes a male: Molecular genetic analysis of key sex-determining genes. Sex reversal and intersex syndromes are among the most common and highly stigmatized disorders affecting newborn babies. Our research will reveal how the Y chromosome regulates normal male development, identify the steps that go wrong in many male babies, and suggest ways to diagnose and deal with these conditions. It will also pave the way for biotechnological applications in the areas of stem cell technology, pest management, wildlife conservation and animal breeding.Read moreRead less
MOLECULAR GENETICS OF MAMMALIAN SEXUAL DEVELOPMENT: Molecular roles of SRY and SOX9. The development of sexual characteristics is critical to the survival of almost all animal species. This project seeks to clarify how male and female embryos develop differently, focusing on the Y-chromosome maleness gene Sry, and a closely related and equally important gene Sox9. We will study how these genes are switched on in developing gonads and how they interact with other genes to bring about testis forma ....MOLECULAR GENETICS OF MAMMALIAN SEXUAL DEVELOPMENT: Molecular roles of SRY and SOX9. The development of sexual characteristics is critical to the survival of almost all animal species. This project seeks to clarify how male and female embryos develop differently, focusing on the Y-chromosome maleness gene Sry, and a closely related and equally important gene Sox9. We will study how these genes are switched on in developing gonads and how they interact with other genes to bring about testis formation in male embryos. In this way we will discover new genes and mechanisms that are important for sexual identity and also other aspects of embryo development.Read moreRead less
Discovery and characterization of new classes of small regulatory RNAs in mammals. The project will reaffirm and enhance Australian leadership in the most rapidly developing area of molecular biological and genetic research, by the application of ultra high-throughput sequencing technologies to discovery of regulatory RNAs, thereby to identify the characteristics of important regulatory pathways that underpin mammalian development, brain function and species diversity. The results of this resear ....Discovery and characterization of new classes of small regulatory RNAs in mammals. The project will reaffirm and enhance Australian leadership in the most rapidly developing area of molecular biological and genetic research, by the application of ultra high-throughput sequencing technologies to discovery of regulatory RNAs, thereby to identify the characteristics of important regulatory pathways that underpin mammalian development, brain function and species diversity. The results of this research will have wide implications and applications in biotechnology, genetic engineering, animal breeding, medical science and advanced informatics.Read moreRead less
Searching for genes influencing reading ability using multivariate genomic linkage analysis and allelic association analysis. Following from the replicated linkages of reading disability to loci on chromosomes 6 & 18, this study examines linkage of these same regions to a range of reading measures in an unselected sample of twins and siblings. Preliminary univariate linkage scans of two neuropsychological reading indices suggest linkage to loci on two chromosomes. Our next step is to include rea ....Searching for genes influencing reading ability using multivariate genomic linkage analysis and allelic association analysis. Following from the replicated linkages of reading disability to loci on chromosomes 6 & 18, this study examines linkage of these same regions to a range of reading measures in an unselected sample of twins and siblings. Preliminary univariate linkage scans of two neuropsychological reading indices suggest linkage to loci on two chromosomes. Our next step is to include reading measures of orthographic skill and phonological decoding in a multivariate linkage analysis with the other reading indices and with measures of IQ and academic achievement. Multivariate linkage increases the power of detecting quantitative traits and assists in defining the phenotype related to the locus. We then aim to identify the functional gene through allelic association analysis. Identification of QTLs for reading ability may lead to practical outcomes such as the behavioural and biomedical management of reading deficits, which may then benefit areas such as scholastic achievement.Read moreRead less
Locating genes for elementary and complex cognitive abilities using genetic linkage and association analysis. This study aims to identify genes influencing cognitive ability by using multiple measures of cognition in combination with genetic linkage and association analyses. Multiple measures can increase the statistical power of finding a gene and provide a more comprehensive framework for charting the functional role of genes. The outcome of locating genes for cognition will provide insight i ....Locating genes for elementary and complex cognitive abilities using genetic linkage and association analysis. This study aims to identify genes influencing cognitive ability by using multiple measures of cognition in combination with genetic linkage and association analyses. Multiple measures can increase the statistical power of finding a gene and provide a more comprehensive framework for charting the functional role of genes. The outcome of locating genes for cognition will provide insight into biological functions of the brain which affect human intellect, and will have downstream practical applications which could include better educational, behavioural and biomedical management of learning and memory disorders, and of other intellectual disabilities.Read moreRead less
Quantitative and Molecular Genetic Analysis of Cognition. This study attempts to unravel the pathways through which genes may exert their influence on cognitive processes by identifying some of the genes associated with normal variation in cognitive ability. Using the cognitive phenotypes we have collected, both linkage and association analysis will be used to find QTLs (locations on the chromosomes at which specific genes contribute to a quantitative trait) associated with processing speed and ....Quantitative and Molecular Genetic Analysis of Cognition. This study attempts to unravel the pathways through which genes may exert their influence on cognitive processes by identifying some of the genes associated with normal variation in cognitive ability. Using the cognitive phenotypes we have collected, both linkage and association analysis will be used to find QTLs (locations on the chromosomes at which specific genes contribute to a quantitative trait) associated with processing speed and other specific abilities. The research will enhance our understanding of the biological mechanisms influencing brain function and paves the way for the genetic dissection of the brain.Read moreRead less
A new paradigm of gene regulation - implications in embryogenesis and disease. The proposed analysis of a new paradigm of gene regulation will provide a new key to understanding genome function and inform some of the most compelling biological issues of our time such as stem cell biology, tissue and organ regeneration and genetic programming. The insights and technologies developed in this program will be widely applicable in biotechnological and pharmacogenomic research in Australia and worldwi ....A new paradigm of gene regulation - implications in embryogenesis and disease. The proposed analysis of a new paradigm of gene regulation will provide a new key to understanding genome function and inform some of the most compelling biological issues of our time such as stem cell biology, tissue and organ regeneration and genetic programming. The insights and technologies developed in this program will be widely applicable in biotechnological and pharmacogenomic research in Australia and worldwide, and assert Australia's leadership in this area of research.Read moreRead less
Rnomics - The Role of Introns and Other Noncoding RNAs in the Evolution and Development of Complex Organisms. Approximately 98% of the transcriptional output of the human genome is noncoding RNA. The aims of the project are to (a) provide direct evidence that introns contain functional information and are part of an RNA-based regulatory network, (b) identify large numbers of new noncoding RNAs and substantiate the conclusion that noncoding RNAs genes are common in eukaryotic genomes, and (c) pr ....Rnomics - The Role of Introns and Other Noncoding RNAs in the Evolution and Development of Complex Organisms. Approximately 98% of the transcriptional output of the human genome is noncoding RNA. The aims of the project are to (a) provide direct evidence that introns contain functional information and are part of an RNA-based regulatory network, (b) identify large numbers of new noncoding RNAs and substantiate the conclusion that noncoding RNAs genes are common in eukaryotic genomes, and (c) provide supporting evidence that the higher eukaryotes have evolved a second tier of gene expression based on RNA. The project has the capacity to transform our understanding of genetic programming in the higher organisms, with considerable scientific and practical implications.Read moreRead less
A shared genetic basis for development of the nervous system and glands. Fruit flies possess strikingly similar versions of the genes that promote normal human development. The list of systems with genetic parallels between humans and fruit flies includes the respiratory and circulatory systems; cardiovascular development and disease; sleep; learning and memory; brain development and disease; taste, sight, smell and hearing. This project could add at least some human glands, the mucous-secreting ....A shared genetic basis for development of the nervous system and glands. Fruit flies possess strikingly similar versions of the genes that promote normal human development. The list of systems with genetic parallels between humans and fruit flies includes the respiratory and circulatory systems; cardiovascular development and disease; sleep; learning and memory; brain development and disease; taste, sight, smell and hearing. This project could add at least some human glands, the mucous-secreting goblet cells, to this list, providing a potentially useful model for studying human diseases associated with gland dysfunction. Read moreRead less