Satellite Repeats and Genetic Disorders
Satellite repeats are long spans of highly repetitive DNA sequences that form an important but unexplored component of eukaryotic genomes. Researchers do know that satellite regions play vital roles especially in the function of centromeres, the region where two chromosomes attach during cell division, and telomeres, the ends of the chromosomes, which help protect them from deterioration. The dysregulation of these functions has been associated with several human genetic disorders, but the repetitive nature of the satellite sequences render them nearly impossible to assemble, thwarting efforts at further analysis.
Daniel A. Barbash and Andrew G. Clark, Molecular Biology and Genetics, have devised a range of approaches in bioinformatics and experimental design that lets them explore patterns of repeating sequences and large-scale structures and therefore to quantitatively describe the satellite repeat composition of a genome. Focusing on the genomes of multiple drosophila populations and species, they have discovered that these features are highly variable across individuals and species. The research therefore opens the door to understanding how satellite repeat variability evolves and how it impacts the biology of the organism. NIH Award Number: 1R01GM119125-01A1