Uncovering the mysteries of sex development and associated human disorders

Professor Peter Koopman
Institute for Molecular Bioscience
The University of Queensland

Abstract: More than 27 years have passed since the discovery of Sry, the Y-chromosomal gene responsible for directing male development in mammalian embryos. This landmark discovery in 20th century molecular genetics opened the door to detailed study of how genetic pathways channel the development of the initially ambiguous embryonic gonads into testes and so generate males, while suppressing ovarian development. I will describe recent progress in understanding the molecular and cellular events that direct gonadal differentiation, using mice as a model, exploiting transcriptomic and other molecular strategies for genome-wide identification of novel sexdetermining genes, and functional analysis using CRISPR/ Cas9 technology. We apply this knowledge to gaining a better understanding of the causes of disorders of sex development (DSDs), a diverse group of conditions that require significant healthcare management because they are commonly associated with negative psychosocial experiences, impaired reproductive capacity, and gonadal cancer. Much of my research is carried out with a view to identifying new DSD genes, studying how they function at the molecular and cellular levels, and applying this knowledge to the diagnosis and clinical management of DSD, so as to improve outcomes for affected children and adults. 

Bio: Peter Koopman is Professor of Developmental Biology at the Institute for Molecular Bioscience of the University of Queensland, Brisbane, Australia. During postdoctoral work in London he jointly discovered the Y-chromosomal male sex-determining gene SRY and demonstrated its ability to cause sex reversal in XX transgenic mice. His team continues to study the genetic pathways that regulate sex determination and gonadal development, applying this knowledge to diagnosing and managing human disorders of sex development. He is author of more than 280 papers, cited over 18000 times, and has given over 250 invited lectures and conference presentations. Prof Koopman is a Senior Principal Research Fellow of the NHMRC, Editor-inChief of the journal Sexual Development, and a Fellow of the Australian Academy of Science.