Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

ABSTRACT: Microsatellites are repeated DNA sequences of 3-6 nucleotides highly variable in length and sequence and that have important roles in genomes regulation and evolution. However, expansion of a subset of these microsatellites over a threshold size is responsible of more than 50 human genetic diseases. Interestingly, some of these disorders are caused by expansions of similar sequences, sizes and localizations and present striking similarities in clinical manifestations and histopathological features, which suggest a common mechanism of disease. Notably, five identical CGG repeat expansions, but located in different genes, are the causes of fragile X-associated tremor/ataxia syndrome (FXTAS), neuronal intranuclear inclusion disease (NIID), oculopharyngodistal myopathy type 1 to 3 (OPDM1-3) an

SUBMITTER: Boivin M 

PROVIDER: S-EPMC8918734 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature