Repeat instability: mechanisms of dynamic mutations

By C. E. Pearson, K. Edamura, J. Cleary. Nature reviews genetics, 2005

947 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/322912bc6130b86d5ffe4e6494fc9be2d9ffbb36

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cellular and Molecular Neuroscience

1. A. Aguilera
2. Jeffrey D. Rothstein

In Molecular Biology

1. Tatiana García-Muse
2. A. Aguilera
3. Saharon Rosset
4. Dinshaw J. Patel
5. David Golan
6. M. Wang
7. J. Kypr
8. A. Phan

Citations in the corpus

• RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention (2013, positive): “Since the discovery of pathogenic repeat expansions as a mechanism of disease in the 1990s, the list of neurodegenerative and neuromuscular disorders characterized by unstable repeat expansions has grown to over 20 (Brouwer et al., 2009; Pearson et al., 2005; Todd and Paulson, 2010).”
• Circular dichroism and conformational polymorphism of DNA (2009, background): “Poly[d(A)] poly[d(T)] and poly[d(G)] poly[d(C)] adopt unusual B-forms.”
• Human telomere, oncogenic promoter and 5′-UTR G-quadruplexes: diverse higher order DNA and RNA targets for cancer therapeutics (2007, background): “A series of nucleotide or repeat expansion disorders caused by the dynamic intergenerational expansion of triple repeat d(CGG)n–d(CCG)n, d(CAG)n–d(CTG)n and d(GAA)n–d(TTC)n sequences are associated with neurological, neuromuscular and neurodegenerative disorders (143,144).”
• Oxidative Stress: A Key Modulator in Neurodegenerative Diseases (2019, background): “It has been shown that repairing damaged DNA might lead to the expansion and instability of CAG trinucleotide repeats in mutant Huntingitin [136].”
• Microsatellite markers: an overview of the recent progress in plants (2011, background): “Microsatellite genesis is an evolutionarily dynamic process and has proven to be exceedingly complex (Ellegren 2004; Pearson et al. 2005).”
• Microsatellite Markers in Plants and Insects. Part I: Applications of Biotechnology (2009, background): “Microsatellite genesis is an evolutionarily dynamic process and has proven to be exceedingly complex (Ellegren 2004; Pearson et al. 2005).”
• lobSTR: A short tandem repeat profiler for personal genomes (2012, background): “STR expansions are implicated in the etiology of a variety of genetic disorders, such as Huntingon’s Disease and Fragile-X Syndrome (Pearson et al. 2005; Mirkin 2007).”
• R loops: from transcription byproducts to threats to genome stability. (2012, background): “Similarly, DNA repeats with the potential to form hairpins are a strong source of DNA breaks and DNA polymerase stalling (reviewed in Aguilera and Gómez-González, 2008; Mirkin and Mirkin, 2007; Pearson et al., 2005).”
• Full-Length Human Mutant Huntingtin with a Stable Polyglutamine Repeat Can Elicit Progressive and Selective Neuropathogenesis in BACHD Mice (2008, background): “Polyglutamine repeats are stable in BACHD mice Both germline and somatic repeat instability is a feature of triplet repeat disorders including HD (Pearson et al., 2005), and has been observed in mouse models of these disorders (Mangiarini et al.”