Human aneuploidy, sex chromosomes and infertility
James Turner
The Francis Crick Institute [London, UK]
The mammalian X and Y chromosomes have specialized roles in germ cell development. Sex chromosome abnormalities, including Klinefelter (XXY) and Jacob (XYY) syndrome, constitute the most common genetic cause of infertility, and are often difficult to treat. However, recent advances in reprogramming and in vitro gametogenesis offer an opportunity to reverse sex chromosome-related infertility. In this presentation, I will outline how the sex chromosomes acquired their special functions in reproduction. I will describe recent proof-of-principle experiments in which we have generated fertile offspring from sterile XXY and XYY mice, and discuss the challenges faced with applying these technologies to infertile patients.
References
- Hirota, T., Ohta, H., Powell, B.E., Mahadevaiah, S.K., Ojarikre, O.A., Saitou, M and Turner, J.M.A (2017). Fertile offspring from sterile sex chromosome trisomic mice. Science 357, 932-935.
- Sangrithi, M.N., Royo, H., Mahadevaiah, S.K., Ojarikre, O., Bhaw, L., Sesay, A., Peters, A.H., Stadler, M and Turner, J.M.A (2017). Non-canonical and sexually dimorphic X dosage compensation states in the mouse and human germline. Developmental Cell 40, 289-301.
- Heard, E and Turner J.M.A (2011) Function of the sex chromosomes in mammalian fertility. Cold Spring Harb Perspect Biol 3, a002675.