Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability.

Proceedings of the National Academy of Sciences of the United States of America - 21 Jan 2020

Khristich Alexandra N, Armenia Jillian F, Matera Robert M, Kolchinski Anna A, Mirkin Sergei M

Abstract excerpt

Friedreich's ataxia (FRDA) is a human hereditary disease caused by the presence of expanded (GAA)n repeats in the first intron of the FXN gene [V. Campuzano et al., Science 271, 1423-1427 (1996)]. In somatic tissues of FRDA patients, (GAA)n repeat tracts are highly unstable, with contractions more common than expansions [R. Sharma et al., Hum. Mol. Genet. 11, 2175-2187 (2002)]. Here we describe an experimental...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA-Directed DNA Polymerase
Share to DNA Polymerase III

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Single-Stranded

Share to Flap Endonucleases

Share to Friedreich Ataxia

Share to Nucleotidyltransferases

Share to Replication Protein A

Share to Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 31911468
DOI: 10.1073/pnas.1913416117
PMCID: PMC6983365

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability.PMID 31911468Read ↗

Large-scale expansions and replication stalling of Friedreich’s ataxia GAA repeats in an experimental mammalian systemSemantic proximity Read ↗

Replication-independent instability of Friedreich's ataxia GAA repeats during chronological aging.Semantic proximity Read ↗

Replication and expansion of trinucleotide repeats in yeast.Semantic proximity Read ↗

Massive contractions of Myotonic Dystrophy Type 2-associated CCTG tetranucleotide repeats occur via double strand break repair with distinct requirements for helicasesSemantic proximity Read ↗

Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells.Semantic proximity Read ↗

REV1 inhibition enhances trinucleotide repeat mutagenesisSemantic proximity Read ↗

Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair.Semantic proximity Read ↗

GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases.Semantic proximity Read ↗

Repeat instability: mechanisms of dynamic mutations.Semantic proximity Read ↗

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.Semantic proximity Read ↗

Structure-forming CAG/CTG repeats interfere with gap repair to cause repeat expansions and chromosome breaks.Semantic proximity Read ↗

Mutations in yeast replication proteins that increase CAG/CTG expansions also increase repeat fragility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.