We are studying sex chromosomes and their impact on health, disease and fertility.
Male and female mammals have genetic and biological differences. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. These sex chromosomes are responsible for differences in growth, behaviour and health between the sexes. We are studying the development, epigenetics, evolution and cell biology of the sex chromosomes in a range of organisms and in vitro models, including human, mouse and opossum.
Infertility is common, affecting approximately 1 in 4 couples and is increasingly common. Sex chromosomes have an important role in the development of the reproductive organs and other tissues. Sex chromosome abnormalities are the most common genetic cause of infertility. For more information, see here:
- Disorders of the Sex Chromosomes, WikiLectures, 2020
- Global prevalence of infertility, infecundity and childnessness, WHO, 2020
- Artificial sperm for mice offers infertile men hope, The Times, 2017
The sex chromosomes also influence male - female differences in susceptibility to diseases. For instance, heart disease is more common in men, whereas Alzheimer’s disease is more prevalent in women.
Because females have twice as many X chromosomes as males, in theory they have a double dose of all the genes on the X. To compensate, females ‘switch off’ one of their X chromosomes in every cell. This process, called X inactivation, happens very early on in development. We want to find out more about how X-chromosome inactivation works and how it evolved in different species.
We will use this knowledge to understand the underlying genetic and molecular causes of infertility in humans and other animals. Through our research, this could lead to new ways how to treat infertile patients and manage diseases related to male - female differences.