Research Summary

Chromosomes are organized in the nuclear space. This organization both influences and is influenced by many chromosomal processes such as replication, repair, gene expression, condensation, nucleolar function, and segregation. In the Gerton lab we are interested in the interplay between chromosome organization and preservation of genomic function. Our research program takes advantage of yeast and mammalian model systems and uses genomics, genetics, microscopy, molecular biology, and biochemistry to study processes that contribute to chromosome maintenance.

 

One group of evolutionarily conserved proteins that influence many different chromosomal processes are the structural maintenance of chromosomes (SMC) proteins.  These proteins are components of large ring shaped complexes that associate with chromosomes at many sites. There are three different types of SMC complexes: cohesin, condensin, and Smc5/6. Mutations that affect cohesin and Smc5/6 cause human developmental syndromes. Mutations in cohesin also act as drivers for cancer. Loss of cohesion in old oocytes contributes to chromosome loss, known as the maternal age effect. Understanding the defects in SMC regulated chromosome metabolism in aging, cancer, and development is a major focus of the Gerton lab. If we can elucidate how SMC complexes contribute to the maintenance of the genome we will understand how SMC complexes contribute to human health and disease.

 

A second evolutionarily conserved protein complex that contributes to chromosome maintenance is the kinetochore. Kinetochores are large macromolecular complexes that connect centromeres to microtubules for chromosome segregation. The Gerton lab is interested in the dynamics of centromeres and kinetochores over the cell cycle and how these dynamics are regulated.

 

News & Updates

June 2017 - Congratulations to Karthik Dhatchinamoorthy on his successful thesis defense! Pictured here with his committee.

Cancer cells may streamline their genomes in order to proliferate more easily

Research from the Stowers Institute provides evidence suggesting that cancer cells might streamline their genomes in order to proliferate more easily. The study, conducted in both human and mouse cells, shows that cancer genomes lose copies of repetitive sequences known as ribosomal DNA.

 

October 2018 - The Gerton Lab welcomed Musinu Zukari and Baoshan Xu for a fun return visit!

In October 2018 Vijay Pratap Singh, a postdoc in the Gerton Lab, attended the annual Center for Trophoblast Research Conference at the University of Cambridge, UK. Dr. Singh presented a poster on his efforts to understand how the placenta contributes to Cornelia de Lange syndrome (CdLS) using mouse models. In November, Dr. Singh presented a talk “Persistent DNA damage in placenta impacts developmental outcomes in mouse cohesinopathy models” in the Translational Research Seminar Series at SIMR. The presentation was in tandem with one from Dr. Isabelle Thiffault, Director of Translational Genomics at Children’s Mercy Hospital, on diagnosis of CdLS in the age of next-gen sequencing. A full audience was there to discuss the urgent need to develop early diagnostic tools for CdLS and other rare diseases. SIMR is proud to be named a Center of Excellence for research on CdLS by the CdLS Foundation.

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