The genetic material is packaged in the cell nucleus with histone proteins. Modifications of histones determine if a particular area of the genome is active or repressed. We are investigating the roles of a family of histone modifying proteins, the MYST proteins. Mutations in these proteins cause intellectual disability and cancer. The research program will provide knowledge that may become the basis for the development of drugs for the treatment of cancer and neurodegenerative disorders.
Muscle Fusion Defects May Be A Common Cause Of Human Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$391,419.00
Summary
While muscle fusion is a crucial step of muscle formation, it is surprising that human muscle diseases were never associated with muscle fusion defects. We have recently undertaken a genome-wide functional screen using a mouse muscle cell line. We identified 21 genes that were previously associated with muscle dystrophies in human. The aim of this project is to examine the role of those genes during muscle fusion in vivo, using the chick embryo, mouse mutants and lines from patients as models.
In Australia, chronic kidney disease costs >$1 billion per annum and can only be treated by dialysis or transplantation. Your kidney function depends upon what happened during your development as all the functional units of the kidney are made prior to birth from a stem cell population that then disappears. We have found a way to recreate these stem cells from adult cells. In this project, we will optimise this process and investigate whether regenerated stem cells can repair an adult kidney.
Whether we are born as a male or a female affects our sense of social place, behaviour, gender identity, reproductive options, and disease susceptibility. I am a molecular geneticist investigating the biology of gender. I study the mechanisms underpinning sexual development, with an emphasis on identifying the genetic causes of ‘intersex’ and transsex disorders. I am also studying how SRY, a male gene, controls voluntary movement, and its possible link to Parkinson’s disease.
The Role Of Rnpc3 In U12-type MRNA Splicing, Gene Expression And Cancer
Funder
National Health and Medical Research Council
Funding Amount
$593,794.00
Summary
The zebrafish is a small tropical fish that is an alternative model to mice for genetic studies. We have used zebrafish to discover genes that are essential for the rapid development of the intestine in the belief that these genes are also essential for tumour growth. We will test whether the loss of RNPC3 (the human version of one of our genes), which is required for the production of a small number of proteins that can suppress the development of cancer, plays a hitherto unappreciated causal r ....The zebrafish is a small tropical fish that is an alternative model to mice for genetic studies. We have used zebrafish to discover genes that are essential for the rapid development of the intestine in the belief that these genes are also essential for tumour growth. We will test whether the loss of RNPC3 (the human version of one of our genes), which is required for the production of a small number of proteins that can suppress the development of cancer, plays a hitherto unappreciated causal role in the development of colon tumours.Read moreRead less
Defects of the internal and external genitalia are among the most common birth defects in babies (1 in 4,000 births) yet the aetiology in many cases is unclear. We will compare and contrast the mouse with a unique animal model the tammar wallaby to investigate the control of ovarian differentiation during early fetal and postnatal life. The gonad is unusual in that two completely different organs arise from the same precursor tissues, so that errors in development lead to intersexual phenotypes. ....Defects of the internal and external genitalia are among the most common birth defects in babies (1 in 4,000 births) yet the aetiology in many cases is unclear. We will compare and contrast the mouse with a unique animal model the tammar wallaby to investigate the control of ovarian differentiation during early fetal and postnatal life. The gonad is unusual in that two completely different organs arise from the same precursor tissues, so that errors in development lead to intersexual phenotypes. Some intersexual conditions are the result of inappropriate exposure to hormones during fetal life, and others are due to spontaneous or inherited gene mutations. About 5-10% of ovarian cancer cases, that affect 1 in 8000 Australian women, are due to the inheritance of a faulty gene. We will use comparative analysis and an inducible sex reversal system to understand the way gene expression and hence tissue differentiation is altered between male and female during the formation of the ovary versus the testis. This will inform us about the causes and consequences of normal and abnormal sexual development, infertility and gonadal malignancies.Read moreRead less
Cancer is linked to mutations in a large variety of genes but how these changes impact on cell behaviour is often unknown. We are using functional genomics in zebrafish to identify genes that are essential for rapid rates of proliferation by intestinal epithelial cells. Seven genes have been cloned so far and our next task is to analyse, using mouse models and human cancer transcriptome analysis, whether any are indispensable for cancer growth and thereby present suitable targets for therapy.