ArticleGenome research2019
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Article in Genome research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Precise breakpoint detection in a patient with 9p- syndrome.Cold Spring Harbor molecular case studies · 2020Pooled it
- Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.Nature communications · 2026Article
- Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus.bioRxiv : the preprint server for biology · 2026Article
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation.Science (New York, N.Y.) · 2024Article
- Article
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2023Article
- A Chinese family with cat eye syndrome and abnormality of eye movement: First case report.Frontiers in pediatrics · 2023Article
- The 22q11.2 Low Copy Repeats.Genes · 2022Review
- Article
- Distinct sequence features underlie microdeletions and gross deletions in the human genome.Human mutation · 2022Article
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
- Social Cognition Impairments in 22q11.2DS Individuals With and Without Psychosis: A Comparison Study With a Large Population of Patients With Schizophrenia.Schizophrenia bulletin open · 2022Article
- Application of full-genome analysis to diagnose rare monogenic disorders.NPJ genomic medicine · 2021Article
- Optical genome mapping enables constitutional chromosomal aberration detection.American journal of human genetics · 2021Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Genome-wide copy number variations in a large cohort of bantu African children.BMC medical genomics · 2021Article
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18 authors.
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Abstract
Low copy repeats (LCRs) are recognized as a significant source of genomic instability, driving genome variability and evolution. The Chromosome 22 LCRs (LCR22s) mediate nonallelic homologous recombination (NAHR) leading to the 22q11 deletion syndrome (22q11DS). However, LCR22s are among the most complex regions in the genome, and their structure remains unresolved. The difficulty in generating accurate maps of LCR22s has also hindered localization of the deletion end points in 22q11DS patients. Using fiber FISH and Bionano optical mapping, we assembled LCR22 alleles in 187 cell lines. Our analysis uncovered an unprecedented level of variation in LCR22s, including LCR22A alleles ranging in size from 250 to 2000 kb. Further, the incidence of various LCR22 alleles varied within different populations. Additionally, the analysis of LCR22s in 22q11DS patients and their parents enabled further refinement of the rearrangement site within LCR22A and -D, which flank the 22q11 deletion. The NAHR site was localized to a 160-kb paralog shared between the LCR22A and -D in seven 22q11DS patients. Thus, we present the most comprehensive map of LCR22 variation to date. This will greatly facilitate the investigation of the role of LCR variation as a driver of 22q11 rearrangements and the phenotypic variability among 22q11DS patients.
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