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Characterisation Of SRY Macromolecular Complexes To Provide An Enhanced Understanding Of Human Genetic Sex Reversal And Embryonic Sex Determination
Funder
National Health and Medical Research Council
Funding Amount
$237,360.00
Summary
SRY is the most important gene in the determination of human sex. Mutations in the SRY gene that disrupt its ability to interact with other cellular proteins that regulate its function have shown to result in genetic sex reversal. This project will provide a detailed structural profile of the interfaces that are critical for sex determination, provide a molecular basis for XY-genetic sex reversal, and an enhanced understanding of foetal development.
Identification And Analysis Of Novel Genes And Regulatory Regions Associated With Disorders Of Sex Development
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
Children born with a disorder of sex development (DSD) may differ from typical males or females in their chromosomes, hormones or reproductive organs, sometimes resulting in infertility or gonadal cancer. DSDs are the most common birth defect and yet, most cases are unexplained genetically. I hope to identify new genes needed for gonad formation that cause DSD when mutated. This work will provide answers as to how DSDs arise, and allow informed decision-making regarding possible treatments.
I am a molecular biologist investigating the role of SRY-SOX transcription factors in the formation and function of the gonad, and to a lesser extent, of bone, the brain and the pancreas. I also identify and functionally characterise other factors causing
Defects in sexual development in the human embryo result in some of the most common forms of birth defects, which have profound physiological and psychosexual ramifications for the afflicted individuals. A fuller understanding of the causes of these defects may lead to improved counseling and perhaps also therapeutic possibilities. This project is aimed at finding and studying the genes that control whether an embryo develops as a male or a female, and the genes that are responsible for proper d ....Defects in sexual development in the human embryo result in some of the most common forms of birth defects, which have profound physiological and psychosexual ramifications for the afflicted individuals. A fuller understanding of the causes of these defects may lead to improved counseling and perhaps also therapeutic possibilities. This project is aimed at finding and studying the genes that control whether an embryo develops as a male or a female, and the genes that are responsible for proper development of the gonads, organs that control an individual's sexual development. It is thought that a genetic chain of events is important for gonadal development, and we aim to find the missing links of that chain and to work out how they fit together.Read moreRead less