Preserving the integrity of the DNA double helix is crucial for the maintenance of genomic
stability. Therefore, DNA double‐strand breaks represent a serious threat to cells. In this …

Transposable elements (TEs) or “jum** genes” historically have been disparaged as a
class of “junk DNA” in mammalian genomes (1, 2). The advent of whole genome DNA …

Poly (ADP-ribose) polymerases (PARPs) play an important role in various cellular
processes, such as replication, recombination, chromatin remodeling, and DNA repair …

Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions
have been observed in genomic disorders. Recently, a chromosome catastrophe …

DNA double-strand breaks (DSBs) are deleterious DNA lesions that if left unrepaired or are
misrepaired, potentially result in chromosomal aberrations, known drivers of carcinogenesis …

During the last two decades, the importance of human genome copy number variation
(CNV) in disease has become widely recognized. However, much is not understood about …

Saccharomyces cerevisiae encodes two Pif1 family DNA helicases, Pif1 and Rrm3. Rrm3
promotes DNA replication past stable protein complexes at tRNA genes (tDNAs). We identify …

Over the past several years, more focus has been placed on dissecting the genetic basis of
complex diseases and traits through genome-wide association studies. In contrast …

DNA lesions that block replication fork progression are drivers of cancer-associated genome
alterations, but the error-prone DNA repair mechanisms acting on collapsed replication are …

Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney
disorder, is caused by mutations in PKD1 or PKD2. The molecular diagnosis of ADPKD is …