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 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 …

Substantial progress has been realized in the past several years in our understanding of the
molecular mechanisms responsible for the expansions and deletions (genetic instabilities) …

Naturally occurring DNA sequences can form noncanonical structures such as H-DNA,
which are abundant and regulate the expression of several disease-linked genes. Here, we …

DNA mismatch repair is a conserved antimutagenic pathway that maintains genomic stability
through rectification of DNA replication errors and attenuation of chromosomal …

Friedreich ataxia, the most common in herited ataxia, is caused by the transcriptional
silencing of the FXN gene, which codes for the 210 amino acid frataxin, a mitochondrial …

Alterations in the length (instability) of gene-specific microsatellites and minisatellites are
associated with at least 35 human diseases. This review will discuss the various cis …

Several molecular mechanisms have been proposed to explain trinucleotide repeat
expansions. Here we show that in yeast srs2 Δ cells, CTG repeats undergo both expansions …

Hypermutable tandem repeat sequences (TRSs) are present in the genomes of both
prokaryotic and eukaryotic organisms. Numerous studies have been conducted in several …

Eukaryotic genomes contain many repetitive DNA sequences that exhibit size instability.
Some repeat elements have the added complication of being able to form secondary …