Active Genetics & Molecular Biology Pregnancy, Children & Inherited Conditions

Mechanism and regulation of chromosome replication

In plain English

AI plain-English summary

Every year, thousands of human eggs and sperm end up with the wrong number of chromosomes, a mistake that can cause miscarriage, Down’s Syndrome, or infertility. This problem is strikingly common—more so in eggs than sperm, and far more frequent in eggs from older mothers. Yet the underlying biology is nearly impossible to study directly in humans. This project will create new genetically modified mice to watch how chromosomes behave inside developing eggs and sperm. By tracking these movements, the researchers aim to uncover why errors become more frequent with age, and why certain genetic mutations can derail the process so severely that people become infertile. This is fundamental science. It will not produce a test or treatment tomorrow. But understanding the precise molecular mechanics of chromosome segregation is a necessary first step. If the work succeeds, it could eventually point toward ways to improve chromosome behaviour in human eggs and sperm—potentially reducing the number of inherited genetic diseases passed to children. Past discoveries in this area have already transformed prenatal screening; deeper knowledge could lead to interventions that prevent errors before conception.

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Our research is trying to find out how we pass on the right number of chromosomes to our children. Mistakes in this process are very common in humans and can cause miscarriage and Down's Syndrome. We know that these mistakes are more common in a mother’s eggs than in a father’s sperm, and are much more common in eggs of older mothers. We also know that genetic mutations can cause chromosome behaviour in developing eggs and sperm to be so severely affected that people with these mutations are infertile. The behaviour of the chromosomes in developing eggs and sperm is difficult to study in humans, therefore we will create new genetically modified mice to help us study why the wrong number of chromosomes are often passed on to our children and how this is affected by ageing. We will also create new genetically modified mice to help us understand the type of mutations that can affect chromosome behaviour in developing eggs and sperm severely enough to cause infertility. We hope that this research will help us develop future approaches to improve chromosome behaviour in developing sperm and eggs and reduce the amount of genetic disease passed on to our children.

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Researchers

Ian Adams (Principal Investigator)

Related Research

Grants with similar aims, by meaning.

Maintaining Genetic and Chromosomal Stability in the Mammalian Germline
Microtubule dynamics and age-related aneuploidy in mammalian oocytes
Chromosome segregation in mammalian meiosis
Regulation of oocyte cohesin and chromosome segregation defects in the female germ line
How are chromosomes segregated correctly during sexual gene reassortment?-understanding how the meiotic chromosome axis functions in gametogenesis

Original classification

Intramural

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