Work continued in 2021 despite the pandemic
Hot on the heels of our first efforts with gene knockouts (Carson!) and base-editing (Bruce!) using CRISPR-Cas9 technology in 2020 which demonstrated that all 3 MutL proteins were required for expansion and that the nuclease activity of MutLɣ was essential, Nan took things a step further using an in vivo CRISPR-Cas9 HDR approach to show that FAN1’s nuclease activity is required for its protection against repeat expansion.
The pandemic also gave us time to catch up with the literature and write some reviews:
- Bruce and Karen wrote: Mechanisms of Genome Instability in the Fragile X-Related Disorders.
- Daman and Karen were joined by Rachel Lokanga, a former Ph.D. student in the lab, now a postdoc at NCI, to write: Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome.
- Nan and Karen wrote: (Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders.
- And the whole lab teamed up with Ricardo Mauro Pinto and his student Antonia Vitalo (Harvard Medical School) to write: Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.
Comings and Goings
- Diego Jimenez joined the lab as a Postbac IRTA. He is working with Dr. Xiaonan Zhao on the mechanism of repeat expansion in the Fragile X related disorders and Huntington’s disease. He is already indispensable.
- Dr. Grace Kim, who joined us in 2018, left us in April for a job as a research scientist with GlycoT Therapeutics. Good luck, Grace.
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