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

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Human mutation - 1 Jan 2013

Dittwald Piotr, Gambin Tomasz, Gonzaga-Jauregui Claudia, Carvalho Claudia M B, Lupski James R, Stankiewicz Paweł, Gambin Anna

Abstract excerpt

Inverse paralogous low-copy repeats (IP-LCRs) can cause genome instability by nonallelic homologous recombination (NAHR)-mediated balanced inversions. When disrupting a dosage-sensitive gene(s), balanced inversions can lead to abnormal phenotypes. We delineated the genome-wide distribution of IP-LCRs >1 kB in size with >95% sequence identity and mapped the genes, potentially intersected by an inversion, that...

Read the complete abstract on PubMed

Topics

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

Share to Segmental Duplications, Genomic
Share to Chromosome Inversion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Gene Duplication

Share to Gene Rearrangement

Share to Genome, Human

Share to Genomic Instability

Share to Recombination, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 22965494
DOI: 10.1002/humu.22217
PMCID: PMC3738003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inverted low-copy repeats and genome instability--a genome-wide analysis.PMID 22965494Read ↗

Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresSemantic proximity Read ↗

A unifying model that explains the origins of human inverted copy number variantsSemantic proximity Read ↗

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Semantic proximity Read ↗

Large Inverted Duplications in the Human Genome Form via a Fold-Back MechanismSemantic proximity Read ↗

Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assembliesSemantic proximity Read ↗

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature reviewSemantic proximity Read ↗

Genomic disorders 20 years on-mechanisms for clinical manifestations.Semantic proximity Read ↗

DNA replication errors drive genome-wide small inverted triplication dynamicsSemantic proximity Read ↗

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.Semantic proximity Read ↗

Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disordersSemantic proximity Read ↗

Synergistic role of <i>Alu</i> and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 regionSemantic proximity Read ↗

A comprehensive tandem repeat catalog of the human genomeSemantic proximity Read ↗

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