Intersection of the fragile X-related disorders and the DNA damage response

• Published in: DNA repair Vol. 144; p. 103785
• Main Authors: Kumari, Daman, Grant-Bier, Jessalyn, Kadyrov, Farid, Usdin, Karen
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.12.2024
• Subjects: Animals; Chromosome fragility; DNA Damage; DNA Repair; Double-strand breaks (DSBs); Fragile X Mental Retardation Protein - genetics; Fragile X Mental Retardation Protein - metabolism; Fragile X Syndrome - genetics; Fragile X Syndrome - metabolism; Humans; Microsatellite instability; Mismatch repair (MMR); MutLα; Non-homologous end-joining (NHEJ); Repeat expansion diseases; Trinucleotide Repeat Expansion; Mismatch repair (MMR); Chromosome fragility; Non-homologous end-joining (NHEJ); Repeat expansion diseases; Double-strand breaks (DSBs); MutLα; Microsatellite instability

The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansi...