This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infecti ....This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infectious disease and cancer. The Australian component will perform a systematic characterisation of enhancer elements of potential disease genes. This characterisation will build on the concept of genomic regulatory blocks (GRBs) which contain highly conserved non-coding elements (HCNEs) acting as long-range enhancers of developmental genes (recently discovered by T. Becker in the ZF-MODELS project).Read moreRead less
Functional Analysis Of Breast Cancer Susceptibility Regions
Funder
National Health and Medical Research Council
Funding Amount
$790,588.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known genes, suggesting that regulatory DNA sequences are responsible for the associated risk. The aim of this proposal is to identify and characterise these DNA sequences. Understanding how sequences variations in these regions contribute to breast cancer will provide novel avenues for therapy.
Identifying Long-range Regulatory Elements Of The Breast Cancer Susceptibility Gene, BRCA1
Funder
National Health and Medical Research Council
Funding Amount
$612,842.00
Summary
BRCA1 is a breast cancer susceptibility gene implicated in both familial and sporadic breast cancers. The mechanisms controlling BRCA1 expression are poorly understood. We will identify DNA sequences critical for regulation of the BRCA1 gene. We hypothesise that these regions are mutational hot spots conferring an increased breast cancer risk. A better understanding of the pathways responsible for promoting BRCA1-associated breast cancer will provide important diagnostic and treatment targets.