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Exceptional Chromosome Regions Workshop I

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Abstract

Gary H. Karpen
The Salk Institute

Our laboratory investigates the structure and function of chromosomes and nuclei. We are particularly interested in understanding the basic mechanisms responsible for ensuring normal chromosome inheritance, a process that is fundamental to all aspects of biology. Our long term goal is to utilize a basic understanding of inheritance in the diagnosis and treatment of human disorders caused by defective chromosome behavior, such as birth defects (e.g., Down's Syndrome) and cancer. Cancer is in part caused by failures in chromosome transmission during cell division, and in the normal monitoring systems (checkpoints) that signal a cell to cease dividing until genome integrity can be restored. For example, tumor progression is characterized by genomic instability and increasing levels of aneuploidy. What are the mechanisms responsible for gain and loss of chromosomes? Unfortunately, we know far too little about the DNA elements and proteins responsible for normal chromosome inheritance in multicellular eukaryotes. Clearly, cancer diagnosis and treatment would be greatly aided by a better understanding of components and mechanisms that act to ensure genome continuity and stability. We have developed the Drosophila Dp1187 minichromosome as a model system for studying chromosome structure and function in higher organisms. In the last year, we have completed molecular-genetic studies that determined the sequence composition of a key cis-acting component of inheritance (the centromere), and studied novel genes and proteins involved in normal inheritance and in linking chromosome and nuclear organization to gene expression.

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