Discover Community Create You

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

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

Human molecular genetics - 1 Jun 2011

Tomé Stéphanie, Panigrahi Gagan B, López Castel Arturo, Foiry Laurent, Melton David W, Gourdon Geneviève, Pearson Christopher E

Abstract excerpt

The instability of (CTG)•(CAG) repeats can cause >15 diseases including myotonic dystrophy, DM1. Instability can arise during DNA replication, repair or recombination, where sealing of nicks by DNA ligase I (LIGI) is a final step. The role of LIGI in CTG/CAG instability was determined using in vitro and in vivo approaches. Cell extracts from a human (46BR) harbouring a deficient LIGI (∼3% normal activity) were...

Read the complete abstract on PubMed

Topics

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

Share to DNA Ligase ATP
Share to DNA Ligases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Replication

Share to Genomic Instability

Share to Mice, 129 Strain

Share to Myotonic Dystrophy

Share to Oocytes

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 21378394
DOI: 10.1093/hmg/ddr099

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.PMID 21378394Read ↗

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

CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair.Semantic proximity Read ↗

Repeat instability as the basis for human diseases and as a potential target for therapy.Semantic proximity Read ↗

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forksSemantic 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 ↗

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.Semantic proximity Read ↗

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.Semantic proximity Read ↗

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.Semantic proximity Read ↗

Huntington’s disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansionSemantic proximity Read ↗

Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.Semantic proximity Read ↗

Functional redundancy between DNA ligases I and III in DNA replication in vertebrate cells.Semantic proximity Read ↗

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.Semantic proximity Read ↗

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