Population and Comparative Genomics
Subtelomere breakage and evolution
Subtelomeres are the terminal regions of chromosomes just proximal of telomere repeats. These regions are one of the most dynamic parts of genomes, and exhibit significant differences within and between species. Rearrangements in subtelomeres are a cause of human disease, as well as a potential source of phenotypic diversity. The Rudd lab studies chromosome breakage mechanisms, focusing on breaks at the ends of chromosomes. We predict that certain subtelomeric sequences are hotspots for both karyotype evolution breakpoints and rearrangements that cause mental retardation and birth defects.
Recent publications:
- Rudd, M.K.*, Endicott, R.M.*, Friedman, C., Walker, M., Young, J.M., Osoegawa, K., NISC Comparative Sequencing Program, de Jong, P.J., Green, E.D., and Trask, B.J. 2008. “Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event.” Genome Research (in press).