The Australian Research Data Commons (ARDC) invites you to participate in a short survey about your
interaction with the ARDC and use of our national research infrastructure and services. The survey will take
approximately 5 minutes and is anonymous. It’s open to anyone who uses our digital research infrastructure
services including Reasearch Link Australia.
We will use the information you provide to improve the national research infrastructure and services we
deliver and to report on user satisfaction to the Australian Government’s National Collaborative Research
Infrastructure Strategy (NCRIS) program.
Please take a few minutes to provide your input. The survey closes COB Friday 29 May 2026.
Complete the 5 min survey now by clicking on the link below.
The Establishment Of Epigenetic Marks At Metastable Epialleles In The Mouse
Funder
National Health and Medical Research Council
Funding Amount
$372,750.00
Summary
Occasionally, identical twins are found to have distinctly different characteristics, such as eye colour or severity of genetic disease, that clearly cannot be explained by their genetic makeup, and are unlikely to be the result of environmental differences. In genetically identical mice, similar cases exist, where some mice have a yellow coat and others a brown coat. In instances such as these, a growing body of evidence suggests that certain modifications to genes are responsible. These modifi ....Occasionally, identical twins are found to have distinctly different characteristics, such as eye colour or severity of genetic disease, that clearly cannot be explained by their genetic makeup, and are unlikely to be the result of environmental differences. In genetically identical mice, similar cases exist, where some mice have a yellow coat and others a brown coat. In instances such as these, a growing body of evidence suggests that certain modifications to genes are responsible. These modifications are not traditional DNA mutations, but are chemical modifications of the basic sequence. Currently, we do not know when these DNA modifications are established during foetal development. We will use the mouse coat colour gene mentioned above to investigate when the different physical characteristics are established in embryonic development. Indeed, there is increasing evidence that critical periods exist in human foetal development where minor environmental or nutritional changes can affect long-term health of the adult. Perhaps the establishment of the DNA modifications are under an environmental or nutritional influence. Further study of when and how the DNA modifications are set-up during embryonic development is necessary in order to understand these events.Read moreRead less
A Random Mutagenesis Screen To Identify Modifiers Of Epigenetic Phenomena In The Mouse.
Funder
National Health and Medical Research Council
Funding Amount
$680,750.00
Summary
In recent months, both the human and mouse genome projects have been completed. The main focus now for mammalian geneticists is to discover the function of the genes sequenced in these initiatives. One way to achieve this goal is by random mutagenesis followed by screening of mice for novel phenotypes. In the mouse, ethylnitosourea (ENU) is a chemical that can be used to perform the mutagenesis. ENU causes mutations in sperm. We are using ENU mutagenesis to search for genes that modify epigeneti ....In recent months, both the human and mouse genome projects have been completed. The main focus now for mammalian geneticists is to discover the function of the genes sequenced in these initiatives. One way to achieve this goal is by random mutagenesis followed by screening of mice for novel phenotypes. In the mouse, ethylnitosourea (ENU) is a chemical that can be used to perform the mutagenesis. ENU causes mutations in sperm. We are using ENU mutagenesis to search for genes that modify epigenetic states. Epigenetic modifications are alterations in the genome that do not change the DNA sequence, yet silence the expression of genes. Silencing occurs on a cell-by-cell basis within a tissue resulting in mosaic expression. Silencing can also occur between individuals of the same genetic makeup. For example, identical twins are occasionally found that have distinctly different characteristics, such as eye colour or severity of genetic disease. These differences may be the result of variable epigenetic modifications. However, very little is known about how these variable epigenetic modifications are controlled. We wish to find the proteins involved in establishing and maintaining epigenetic states. It is likely that these processes play a fundamental role in the determination of phenotype, both in normal development and disease.Read moreRead less
Molecular Control Of Cell Proliferation In Early Mouse Development
Funder
National Health and Medical Research Council
Funding Amount
$338,009.00
Summary
Elucidation of cell cycle regulation in the proliferating pluripotent cells of the early mammalian embryo is likely to have important impact on basic scientific knowledge, and on the development of novel therapeutic strategies. Investigation of this problem, in vitro and in vivo, requires specialist skills in cell cycle analysis, and experimental manipulation of mammalian embryos and pluripotent cells. This application will seek to address these fundamental issues of early development and cell p ....Elucidation of cell cycle regulation in the proliferating pluripotent cells of the early mammalian embryo is likely to have important impact on basic scientific knowledge, and on the development of novel therapeutic strategies. Investigation of this problem, in vitro and in vivo, requires specialist skills in cell cycle analysis, and experimental manipulation of mammalian embryos and pluripotent cells. This application will seek to address these fundamental issues of early development and cell proliferation using molecular approaches. The general aims will be: 1. to obtain a detailed description of cell cycles in pluripotent and differentiating cells of the mouse embryo 2. use this information to build a molecular description of cell cycle events during early embryogenesis 3. investigate the relationship between rapid cell proliferation in the embryo and pluripotencyRead moreRead less
Hedgehog Signalling In Limb And Craniofacial Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$494,544.00
Summary
Anomalies of the face and limbs are amongst the most common features of human birth defects, and their frequent association suggests that the same genes are involved in governing the development of the limbs and face during embryogenesis. We have used a genomics-based approach to identify genes involved in limb development based on their alteration in a mouse model which develops extra fingers and toes. Defects in this mouse result from changes in Gli3, a gene which is known to be important in b ....Anomalies of the face and limbs are amongst the most common features of human birth defects, and their frequent association suggests that the same genes are involved in governing the development of the limbs and face during embryogenesis. We have used a genomics-based approach to identify genes involved in limb development based on their alteration in a mouse model which develops extra fingers and toes. Defects in this mouse result from changes in Gli3, a gene which is known to be important in both limb and face development. Based on the organs in which our genes of interest are active, we believe that they will also play key roles in embryonic development of the limbs, face and other organs. We now plan to investigate the regulation of a subset of these genes based on analysis in mouse models of limb and face development. In addition, we have chosen to further analyse the function of a completely novel gene we have identified which our preliminary studies suggest may play a role in the normal development of the lip and palate. These studies have the potential to shed light on the processes governing how organs develop, as well as on the molecular basis of common birth defects such as polydactyly (extra fingers and toes) and cleft palate.Read moreRead less
Characterisation Of A Signal Transduction Pathway In The Early Embryo
Funder
National Health and Medical Research Council
Funding Amount
$208,500.00
Summary
The creation of embryos in the lab is important in assisted reproductive technology (ART) and potentially in cell therapies using embryonic stem cells. Yet, the development of the early embryo is not well understood. Creation of embryos in the lab is expensive and much of this cost is related to the relative inefficiency of the technology due to the high mortality of the resulting embryos. Typically, 45 - 80% of embryos produced by ART do not survive the first week. Hormones are essential chemic ....The creation of embryos in the lab is important in assisted reproductive technology (ART) and potentially in cell therapies using embryonic stem cells. Yet, the development of the early embryo is not well understood. Creation of embryos in the lab is expensive and much of this cost is related to the relative inefficiency of the technology due to the high mortality of the resulting embryos. Typically, 45 - 80% of embryos produced by ART do not survive the first week. Hormones are essential chemical messengers that regulate the normal functions of the body. Early embryo development is dependent on the action of special hormones that are produced by the embryonic cells themselves. The actions of these hormones are necessary for their normal survival. ART compromises the production and action of several of these hormones. Currently, there is not a detailed picture of how these embryonic hormones act on the embryo to promote their survival. Cells respond to outside hormones by changing the activity of a number intracellular proteins that act as on-off switches. The combinatorial pattern of 'switch' settings is modified by hormones, which in turn can act to change the pattern of gene expression. This project will extend our extensive studies on the nature of action of the well-described embryonic hormone known as PAF. The mechanism by which this hormone acts to signal changes in the pattern of the embryo's gene expression will be investigated. An understanding of how these embryonic hormones work will in the future allow for significant improvements in embryo viability.Read moreRead less
Role Of Tumour Suppressor Genes In Early Embryopathy
Funder
National Health and Medical Research Council
Funding Amount
$408,000.00
Summary
Assisted reproductive technologies (ART, such as IVF and related techniques) are successful treatments for most forms of infertility. Much of this is due to the high mortality of the resulting embryos. Typically, 45-80% of embryos produced by ART do not survive the first week. The high mortality of the early embryo seems to be a general feature of ART but its causes and effectors are incompletely defined. It has been established that this high mortality is largely due to a marked retardation in ....Assisted reproductive technologies (ART, such as IVF and related techniques) are successful treatments for most forms of infertility. Much of this is due to the high mortality of the resulting embryos. Typically, 45-80% of embryos produced by ART do not survive the first week. The high mortality of the early embryo seems to be a general feature of ART but its causes and effectors are incompletely defined. It has been established that this high mortality is largely due to a marked retardation in the rate of cell cycle progression by embryo cells, and commonly is associated with a form of cell 'suicide', known as apoptosis. In non-embryonic cells a group of genes known as the tumour suppressor genes (TSGs) are responsible for slowing cell-cycle progression and are commonly involved in inducing apoptosis following cell stress. The role of TSGs in the early embryo is not well studied. We have recently shown that the most important of the TSGs, P53, is normally kept at very low levels in the early embryo but that ART causes up-regulation of its expression. This upregulation is a major cause of the embryopathy associated with ART in an animal model but that genetic mutations that prevent P53 expression favours increased embryo development and viability. This project will examine whether ART also causes up-regulation other important TSGs and whether this occurs in human embryos. We will examine the hypothesis that ART increases the survival of embryos with mutations to the P53 gene (creating a postive genetic selection pressure in favour of these mutations); and which aspects of ART cause this positive selection. The project will demonstarte whether changes in the ART procedures have the potential to mitigate against selection of embryos bearing deletrious mutations.Read moreRead less
Does Mobile DNA Activity Contribute To Reproductive Failure?
Funder
National Health and Medical Research Council
Funding Amount
$389,076.00
Summary
One in four pregnancies in Australia will end in miscarriage. Infertility affects about 15% of Australian couples and is highly correlated with increasing maternal age. In this study, we will use cutting edge single-cell genomic approaches to investigate the activity of mobile DNA elements or “jumping genes” as a previously unexplored cause of reproductive failure, including spontaneous miscarriage and age-related female infertility.