Research Overview |
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|My lab uses the yeast, Saccharomyces
cerevisiae (baker's yeast) as a model organism to study
how genome instability contributes to human genetic disease.
The majority of inherited genetic diseases are caused by
point mutations in DNA. However, in 1991, a new type of
mutation was discovered: the expansion of trinucleotide
repeat sequences. This type of mutation, expansion of a
repetitive DNA sequence, is the cause of a number of
inherited diseases. Some examples include Huntington's
disease (a degenerative neurological disease), Fragile X
syndrome (the most common inherited mental retardation), and
myotonic dystrophy (a type of muscular dystrophy).
The mechanism of trinucleotide repeat instability is
interesting both for understanding the origin of the triplet
repeat diseases and for a basic understanding of genome
stability and how repair and replication occur within
repetitive DNA. The timing and mechanism of expansion are
important for understanding how triplet diseases are
inherited as well as for predicting disease development
during an individual's lifetime. In addition, some expanded
repeats, including CTG/CAG sequences, are sites of
chromosome fragility, areas prone to breakage in vivo.
Chromosome breakage is implicated in the generation of
translocations and deletions found in many types of cancer.
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