I wrapped up my Ph.D. in Biochemistry and Molecular Genetics from the University of Virginia in 2019, while using budding yeast to explore heterochromatin formation and three-dimensional chromatin structures. While budding yeast genetics is beautiful because it offers mendelian patterns of inheritance, human genetics is often much more complex with no clear cut rules for inheritance in a majority of disease. Thus, I joined the Chakravarti lab as part of a collaboration between the NYU Center for Human Genetics and Genomics and NYU Center for Synthetic Regulatory Genomics (SyRGE) to study the effects of combinations of risk alleles in Hirschsprung’s disease by building synthetic haplotypes in budding yeast, which are then transfected into mice to examine presentation of disease. Essentially asking the question, why do certain combinations of gene variants result in disease while others do not?
1. Fine, R.D., Maqani, N., Li, M., Franck, E., and Smith, J.S. (2019). Depletion of limiting rDNA structural complexes triggers chromosomal instability and replicative aging of Saccharomyces cerevisiae. Genetics. May 1;212:75-91.bioRxiv: https://doi.org/10.1101/380675
2. Maqani, N.*, Fine, R.D.*, Shahid, M., Li, M., Enriquez-Hesles, E. and Smith, J.S. (2018). Spontaneous mutations in CYC8 and MIG1 suppress the short chronological lifespan of budding yeast lacking SNF1/AMPK. Microb. Cell. Feb 19;5(5):233-248.
3. Buck, S. W., Maqani, N., Matecic, M., Hontz, R., Fine, R.D., Li, M., and Smith, J.S. (2016). RNA Polymerase I and Fob1 contributions to transcriptional silencing at the yeast rDNA locus. Nucleic Acids Res. Jul 27;44(13):6173-84.