Faculty & Research
Catherine Freudenreich
Associate Professor
Molecular Biology: Yeast Genetics
Education
Ph.D., Duke University - 1994
Graduate Research Area:
Genetics and Molecular Biology
Research Interests
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 in humans. 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, expanded CGG/CCG and 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. One aim of my lab is to elucidate the mechanisms involved in triplet
repeat instability and fragility, and determine how these two unusual
characteristics are interrelated. For example, we are analyzing tract stability
and fragility in yeast mutants deficient in processes important for genome
stability such as DNA replication, DNA repair, and the cell cycle checkpoint.
To find other pathways involved in repeat instability, we are using a novel
genetic assay to screen for proteins whose expression influences repeat
expansion or fragility. In addition to triplet repeats, several other
types of minisatellite sequences that act as fragile sites have been characterized in
human cells, and we are testing whether the conditions and proteins that affect
triplet repeats also affect these sequences, and the consequences of chromosome
breakage for cell growth and survival.
Courses
Bio 50: Experiments in Molecular Biology
Bio 188: Seminar in Molecular Biology and Genetics
Bio 243: Graduate Seminar in Molecular and Cell Biology
Chem 6: Big Bang to Humankind
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