Exceptional Chromosome Regions Workshop I
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.
There are sub-projects on:
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