The Role of Repetitive DNA Elements in the Development and Progression of Human Disease
Prof. Margaret M. DeAngelis E-Mail
Professor, Department of Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, USA
Prof. Tamim Shaikh E-Mail
Professor, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA
A very large fraction of the human genome consists of repetitive DNA elements, that have greatly impacted the structure and evolution of the genome. These repetitive elements have also played an important role in disease etiology via insertional mutagenesis and aberrant recombination, which can further lead to rearrangements including deletions, duplications, translocations, and inversions, collectively referred to as structural variations. The ongoing advances in sequencing technologies are now enabling the discovery of an increasing number of complex structural variations underlying human disease, resulting from repetitive DNA element-mediated rearrangements. Thus, we would like this special issue to focus on this area of human disease genomics which remains under-appreciated.
This special issue will include primary research papers and reviews. The content will range from a basic primer of DNA repetitive elements and what they are, to their role in disease mechanism, with a primary focus on neurodegenerative disease and neurodevelopmental diseases, and potential avenues for targeted therapies in ameliorating human suffering.
Keywords: copy number alteration, copy number variant, ALU, LINEs, SINEs, Segmental Duplications, Simple Sequence Repeats (SSRs), repetitive elements, duplication, inversion, translocation, deletion