Article

Pathogenic CANVAS (AAGGG) <sub>n</sub> repeats stall DNA replication due to the formation of alternative DNA structures

2023-07-26

Abstract excerpt

<h4>ABSTRACT</h4> CANVAS is a recently characterized repeat expansion disease, most commonly caused by homozygous expansions of an intronic (A 2 G 3 ) n repeat in the RFC1 gene. There are a multitude of repeat motifs found in the human population at this locus, some of which are pathogenic and others benign. In this study, we conducted structure-functional analyses of the main pathogenic (A 2 G 3 ) n and t...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3614b7db-99d7-579f-b0d2-e20fdb96e984
DOI: 10.1101/2023.07.25.550509

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathogenic CANVAS (AAGGG) <sub>n</sub> repeats stall DNA replication due to the formation of alternative DNA structuresDOI 10.1101/2023.07.25.550509Read

<i>RFC1</i> AAGGG pentanucleotide repeats form parallel G-quadruplex: structural implications for aberrant molecular cascades in CANVASSemantic proximity Read

Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with CANVASSemantic proximity Read

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in <i>RFC1</i> causes CANVASSemantic proximity Read

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisSemantic proximity Read

Non-B DNA structures and their contributions to genetic diversity, aging, and disease.Semantic proximity Read

The CGG triplet repeat binding protein 1 counteracts DNA secondary structure-induced transcription-replication conflictsSemantic proximity Read

Linking Dynamic DNA Secondary Structures to Genome InstabilitySemantic proximity Read

Mutagenesis at non-B DNA motifs in the human genome: a course correctionSemantic proximity Read

[Repeat-associated diseases, mutagenesis, pathogenesis, and therapeutic avenues].Semantic proximity Read

Short-range, orientation-reversing template-switching events occur at a high frequency in the human and yeast genomesSemantic proximity Read

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexitySemantic proximity Read

DCLRE1A orchestrates CAG repeat contraction following Cas12a-induced DNA breaksSemantic proximity Read