Bob Lahue
Prof Bob Lahue
Professor in Biochemistry
bob.lahue@universityofgalway.ie
Ábhair Spéise
- DNA mutagenesis
- DNA Repair
- Trinucleotide Repeat Instability
Achoimre ar Thaighde
Our chromosomes constantly undergo the opposing forces of DNA mutagenesis and DNA repair. Mutagenesis is incredibly frequent at trinucleotide repeats in families with certain hereditary neurological diseases. These site-specific expansions, or gains of triplet repeats, occur in cells that appear otherwise normal.
These features suggest that the usual rules governing mutagenesis and repair no longer apply, and that protein activities are altered when acting at triplet repeats.
We use genetics, biochemistry and cell biology to study triplet repeat expansions in cultured cells of the human central nervous system. The goal of this work is to uncover the molecular mechanisms of how triplet repeats expand, and what protein factors are important in favoring or inhibiting the expansion process.
To date, the mismatch repair protein MutSß and the histone deacetylases HDAC3 and HDAC5 were identified as key factors that favor expansions. Their activities are counteracted by the DNA helicase RTEL1, which inhibits expansions. The activities of these proteins are currently under active investigation.
Eochairfhocail
DNA Damage, DNA Repair, Trinucleotide Repeat Expansion, Mismatch Repair.
Baill an Ghrúpa
- Dr Karolina Salciute
Foilseacháin Roghnaithe
- RTEL1 inhibits trinucleotide repeat expansions and fragility
- Trinucleotide repeat expansions catalyzed by human cell-free extracts
- Histone deacetylase complexes promote trinucleotide repeat expansions
- MutSbeta and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells
Foilseacháin is Déanaí
Nascanna Áisiúil
Téigh i dTeagmháil!
bob.lahue@universityofgalway.ie