The role of centromere proteins in centromere assembly, chromosome instability, and cancer

点击翻译按钮获取中文摘要

Our genetic information are organised into compact structures known as chromosomes in our cells. Each human cell has 46 chromosomes. Excess or insufficient copies of these chromosomes will cause genetic imbalance that often results in serious clinical problems such as Down syndrome, cancer, embryonic death, and a host of other syndromes. The study of the process of how the exact number of chromosomes is distributed amongst daughter cells when cells divide is therefore an important area of research. Our laboratory has focused research on a key structure of the chromosome known as the centromere that determines how this process is controlled. The present project aims to study the properties of the centromere in detail using the technique of targeted gene mutation in mice. In these mice, the functions of individual genes that make specific centromere proteins are destroyed or modified through a precisely controlled mutation process. The effects such mutations have on the development of the animals and on chromosome division can then be analysed in great detail. The outcome will be a significant increase in our understanding of the functions of the different centromere proteins, an understanding that is key to the further advancement of our knowledge on the aetiology of some of the most frequently seen disease conditions in humans, including cancer.