Transformative R01 Program
ROLE OF LONG-RANGE CHROMATIN INTERACTIONS IN GENETIC DISEASE
This image depicts the contrast between the human genome sequence, represented as text in a book, and the three-dimensional structure of the genome within the nucleus. Physical interaction between DNA sequences (for example, between an enhancer and a promoter) is one of the primary regulatory mechanisms used to control gene expression. However, sequences that interact within the nucleus often appear unrelated on a one-dimensional (sequence) plot: loops of DNA unite sequences that are separated by many nucleotides, and DNA sequences can even interact with other sequences that are on entirely different chromosomes. This is illustrated here as DNA sequences (labeled green and red) that co-localize within the nucleus, even though the genome sequence itself does not explain their physical relationship.