Every time an egg or sperm cell forms, a specialised cell division called meiosis must halve the number of chromosomes without making mistakes. When meiosis goes wrong, embryos inherit the wrong number of chromosomes, causing genetic conditions such as Down syndrome, as well as miscarriage. Researchers know some risk factors—maternal age is a major one—but they do not understand how those risks actually disrupt chromosome behaviour inside developing eggs and sperm. This programme uses genetically modified mice and cultured cell lines to identify the molecules that normally keep meiotic chromosomes stable, and to test whether those pathways can be manipulated to prevent errors from occurring. The work is fundamental science: it aims to reveal the basic mechanisms that safeguard chromosome number in the mammalian germline. If the pathways are successfully controlled in mice, the findings could eventually point toward ways to reduce chromosomal abnormalities in human eggs and sperm, potentially lowering the incidence of miscarriage and inherited disorders. That translation is years away, but understanding how these pathways work is a necessary first step.
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The egg and sperm cells that pass genetic information from parents to their children go through a specialised form of cell division called meiosis. Meiosis halves the number of chromosomes in the developing eggs and sperm, but mistakes during meiosis can result in embryos inheriting the wrong number of chromosomes. This can cause genetic disease and miscarriage, and is the basis of some common inherited conditions in humans such as Down Syndrome. Although we know some of the risk factors for these meiotic errors in humans, we don’t fully understand how risk factors like maternal age affects meiotic chromosomes, or how risk factors like the number of chromosomal exchanges in meiosis are normally regulated. We have previously identified new pathways operating in mice that prevent some of these meiotic mistakes from occurring in the developing eggs and sperm. The aim of this programme is to better understand how these pathways affect chromosome behaviour in meiosis in mice. We will use a combination of cultured cell lines and genetically modified mice to investigate which chromosome-associated molecules are regulated by these pathways, and to investigate if we can manipulate these pathways to reduce or prevent chromosomal abnormalities from arising in developing eggs and sperm. We hope that by understanding and manipulating these pathways in mice, we will learn more about how we might, in the future, be able to prevent chromosomal abnormalities from arising in humans.
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