The Hidden Side of Unstable DNA Repeats: Mutagenesis at a Distance

Overview

Journal DNA Repair (Amst)

Publisher Elsevier

Specialties Biochemistry
Molecular Biology

Date 2015 May 10

PMID 25956860

Citations 23

Authors

Kartik A Shah

Sergei M Mirkin

Affiliations

Soon will be listed here.

Abstract

Structure-prone DNA repeats are common components of genomic DNA in all kingdoms of life. In humans, these repeats are linked to genomic instabilities that result in various hereditary disorders, including many cancers. It has long been known that DNA repeats are not only highly polymorphic in length but can also cause chromosomal fragility and stimulate gross chromosomal rearrangements, i.e., deletions, duplications, inversions, translocations and more complex shuffles. More recently, it has become clear that inherently unstable DNA repeats dramatically elevate mutation rates in surrounding DNA segments and that these mutations can occur up to ten kilobases away from the repetitive tract, a phenomenon we call repeat-induced mutagenesis (RIM). This review describes experimental data that led to the discovery and characterization of RIM and discusses the molecular mechanisms that could account for this phenomenon.

Citing Articles

Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.

Hisey J, Masnovo C, Mirkin S NAR Mol Med. 2024; 1(4):ugae024.

PMID: 39723156 PMC: 11667243. DOI: 10.1093/narmme/ugae024.

Suppressors of Break-Induced Replication in Human Cells.

Dean Rider Jr S, Damewood 4th F, Gadgil R, Hitch D, Alhawach V, Shrestha R Genes (Basel). 2023; 14(2).

PMID: 36833325 PMC: 9956954. DOI: 10.3390/genes14020398.

Interactions of small molecules with DNA junctions.

McQuaid K, Pipier A, Cardin C, Monchaud D Nucleic Acids Res. 2022; 50(22):12636-12656.

PMID: 36382400 PMC: 9825177. DOI: 10.1093/nar/gkac1043.

Replication dependent and independent mechanisms of GAA repeat instability.

Masnovo C, Lobo A, Mirkin S DNA Repair (Amst). 2022; 118:103385.

PMID: 35952488 PMC: 9675320. DOI: 10.1016/j.dnarep.2022.103385.

Mechanisms of the Repeat Instability: How Does the CGG Sequence Expand?.

Tabolacci E, Nobile V, Pucci C, Chiurazzi P Int J Mol Sci. 2022; 23(10).

PMID: 35628235 PMC: 9141726. DOI: 10.3390/ijms23105425.

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