Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …

Common fragile sites (CFSs) are genomic regions that are unstable under conditions of
replicative stress. Although the characteristics of CFSs that render them vulnerable to stress …

The expansion of repeated sequences is the cause of over 30 inherited genetic diseases,
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …

Common fragile sites (CFSs) are difficult-to-replicate genomic regions that form gaps and
breaks on metaphase chromosomes under replication stress. They are hotspots for …

DNA replication is essential for faithful transmission of genetic information and is intimately
tied to chromosome structure and function. Genome duplication occurs in a defined temporal …

Germline mutations in the BRCA genes are associated with a higher risk of carcinogenesis,
which is linked to an increased mutation rate and loss of the second unaffected BRCA allele …

DNA replication occurs in a defined temporal order known as the replication-timing (RT)
program. RT is regulated during development in discrete chromosomal units, coordinated …

DNA replication follows a strict spatiotemporal program that intersects with chromatin
structure but has a poorly understood genetic basis. To systematically identify genetic …

A dynamic mutation in exon 1 of the FMR1 gene causes Fragile X-related Disorders (FXDs),
due to the expansion of an unstable CGG repeat sequence. Based on the CGG sequence …