The frequent occurrence of transcription and DNA replication in cells results in many
encounters, and thus conflicts, between the transcription and replication machineries. These …

Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

A cursory look at any textbook image of DNA replication might suggest that the complex
machine that is the replisome runs smoothly along the chromosomal DNA. However, many …

Recent research has established clear connections between G‐quadruplexes and human
disease. Features of quadruplex structures that promote genomic instability have been …

Epigenetic gene silencing is seen in several repeat-expansion diseases. In fragile X
syndrome, the most common genetic form of mental retardation, a CGG trinucleotide–repeat …

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 …

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 …

Alterations of the dynamics of DNA replication cause genome instability. These alterations
known as “replication stress” have emerged as a major source of genomic instability in pre …

Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …

Fragile X syndrome (FXS) is an X chromosome–linked disease leading to severe intellectual
disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (FMR1) gene …