Refining the timescale of human evolution and dispersal using ancient DNA. Understanding the timescale of human evolution and migration is a key goal of genetic analysis. It provides the foundation for studying our evolutionary and demographic history, our relationships to other hominids and our impact on the natural world. This project aims to use ancient DNA data to improve estimates of our evolutionary timescale.
Small is beautiful: Did gene-rich regions of mammal chromosomes evolve from microchromosomes? Most birds and reptile genomes feature many tiny microchromosomes. These are not junk, as previously thought, but contain most of the genes. Mammals lack microchromosomes, but contain gene-rich regions with similar attributes. We suggest that microchromosomes originated by genome duplication, and evolved into the gene-rich regions of mammalian chromosomes. We will test this hypothesis by comparing seque ....Small is beautiful: Did gene-rich regions of mammal chromosomes evolve from microchromosomes? Most birds and reptile genomes feature many tiny microchromosomes. These are not junk, as previously thought, but contain most of the genes. Mammals lack microchromosomes, but contain gene-rich regions with similar attributes. We suggest that microchromosomes originated by genome duplication, and evolved into the gene-rich regions of mammalian chromosomes. We will test this hypothesis by comparing sequences and genes in microchromosomes of birds, reptiles and monotremes. This will clarify the origin and evolution of the ?microgenome?, establish its suitability as a model for vertebrate genome organisation, and demonstrate whether microchromosomes are the ancestors of the gene-rich regions of mammalian chromosomes.Read moreRead less
Developing new methods to retrieve and analyse preserved genetic information. This project will position Australia at the leading edge of research into preserved DNA, and will use innovative molecular biology approaches to develop a range of new forensic, archaeological and medical applications. It will build Australian knowledge and scientific capacity by developing core expertise and training personnel in areas important for biosecurity, customs and quarantine, forensics/counter-terrorism, and ....Developing new methods to retrieve and analyse preserved genetic information. This project will position Australia at the leading edge of research into preserved DNA, and will use innovative molecular biology approaches to develop a range of new forensic, archaeological and medical applications. It will build Australian knowledge and scientific capacity by developing core expertise and training personnel in areas important for biosecurity, customs and quarantine, forensics/counter-terrorism, and studies of climate change. It will also create and foster research innovation in molecular biology with spin-offs for evolution, archaeology, medical and conservation biology research, and will also encourage involvement with the rapidly expanding field of genomics and bioinformatics.Read moreRead less
Adaptation to life in the dark: genomic analyses of blind beetles. This project aims to utilise a unique Australian model system based on multiple, independently-evolved subterranean water beetles to explore the adaptive and regressive changes in the genome that occur when surface species colonise subterranean habitats. This project focuses on the evolution of Heat Shock protein (Hsp) genes that play critical roles in adaptation to environmental stress and the process of de-canalisation, the rel ....Adaptation to life in the dark: genomic analyses of blind beetles. This project aims to utilise a unique Australian model system based on multiple, independently-evolved subterranean water beetles to explore the adaptive and regressive changes in the genome that occur when surface species colonise subterranean habitats. This project focuses on the evolution of Heat Shock protein (Hsp) genes that play critical roles in adaptation to environmental stress and the process of de-canalisation, the release of cryptic genetic variation that can allow novel morphologies to evolve in new environments. The project expects to provide further understanding of how species may potentially adapt to environmental stresses in the future, including climate change.Read moreRead less
Is regressive evolution associated with loss of gene function in subterranean animals? This project aims to investigate a fundamental biological process: the evolutionary basis for how non-functional characters, such as eyes in subterranean animals, are lost. It will use a unique model system based on eyeless water beetles, and utilise novel new genomic tools to test whether loss of characters results from gene inactivation.
Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
Epilepsy: Molecular Basis And Mechanisms In The Era Of Functional Genomics
Funder
National Health and Medical Research Council
Funding Amount
$12,062,533.00
Summary
The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these stud ....The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these studies. This will include extensive laboratory studies, including the development of mice with the exact mutations that we find in the human condition. Stateof-the-art imaging techniques with magnetic resonance and positron emission tomography are used in human subjects to further understand the effects of the mutations on the structure and function of the brain. This will allow deep understanding of how seizures develop and may lead to new diagnostic methods and treatments. The laboratory and clinical aspects of the research are tightly integrated in this internationally leading collaborative program.Read moreRead less
Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
A shipload of consequences: studying the impact of Old World diseases on native South American populations via ancient DNA. This pioneering project will give the first real-time picture of the genetic changes induced by epidemics in human populations. This will reveal important new information about the likely impact of future epidemics on the genetic diversity of the immune system in modern human populations and will be of substantial use in building epidemiological models. By proposing to comb ....A shipload of consequences: studying the impact of Old World diseases on native South American populations via ancient DNA. This pioneering project will give the first real-time picture of the genetic changes induced by epidemics in human populations. This will reveal important new information about the likely impact of future epidemics on the genetic diversity of the immune system in modern human populations and will be of substantial use in building epidemiological models. By proposing to combine state-of-the-art science with global problems of humanity, we will address Australia's interests in expanding scientific expertise beyond its borders and place Australia at the leading edge of disease impact studies.Read moreRead less
Endosymbiotic DNA transfer. Interorganellar DNA movement is a major force in evolution. In higher organisms, the prokaryotic ancestors of mitochondria and chloroplasts donated many genes to the nucleus. Plants have unique potential in studies of the mechanisms that have driven genome evolution. We established experimentally that DNA moves from the chloroplast to the nucleus at high frequency and this provided us with a world lead in this scientifically new area. The relocated genes contribute to ....Endosymbiotic DNA transfer. Interorganellar DNA movement is a major force in evolution. In higher organisms, the prokaryotic ancestors of mitochondria and chloroplasts donated many genes to the nucleus. Plants have unique potential in studies of the mechanisms that have driven genome evolution. We established experimentally that DNA moves from the chloroplast to the nucleus at high frequency and this provided us with a world lead in this scientifically new area. The relocated genes contribute to the number and diversity of genes and gene function. Genetically manipulated (GM) crops use the chloroplast compartment to make high levels of protein, necessitating a full understanding of how transgenes behave within the cellular and the external environment.Read moreRead less