Page 12 - Annual Report 2020

Rafael Contreras, Ph.D.
Genome Instability and Chromosome Biology
SECTION LEADER / ASSISTANT PROFESSOR
“In the last years I
have annotated cen- tromere sequences to fill the gaps of human centromere maps. This is very important for human genomics, as recent evidence from our lab and other investigators has indicated that specific alpha repeats recruit centromeric chromatin factors that assemble
the kinetochore.”
Rafael Contreras
Souren Paul Preston McCourt
My research interests are focused on investi- structure and evolution of centromere sequences,
gating the function of repetitive areas of the
human genome. I have a special interest in centromere genomics. The centromere is the struc- tural unit responsible for the correct segregation of chromosomes during cell division. Destabilization
of centromere function results in chromosomal mis-segregation and instability, hallmarks of fibrosis, cancers and birth defects. I am investigating the
the epigenetic interactions of chromatin factors that modulate centromere function on centromere sequences, and the role these elements play in chromosome segregation and genome instability in non-disjunction disorders, cancers, and fibrosis. In addition, my laboratory studies the evolution and replication of endogenous and exogenous retrovi- ruses, including HERVs, HIV and SARS-Cov-2.
SUMMARY
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