ArticleAmerican journal of human genetics2006
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed.
- Convergent evolution through independent rearrangements in the primate amylase locus.Cell reports · 2026Article
- Lepidopteran Genomes Have Denser Transposable Elements in Smaller Chromosomes, Likely Driven by Non-allelic Homologous Recombination.Genome biology and evolution · 2025Article
- Article
- Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.Cell genomics · 2024Article
- CRISPR/Cas9-induced gene conversion betweenHGG advances · 2022Article
- Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.Human genetics · 2021Review
- Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST.Scientific reports · 2020Article
- Predicting human genes susceptible to genomic instability associated withGenome research · 2018Article
- Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- The impact of recombination on human mutation load and disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.Human molecular genetics · 2016Article
- Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.Human mutation · 2016Article
- SRBreak: A Read-Depth and Split-Read Framework to Identify Breakpoints of Different Events Inside Simple Copy-Number Variable Regions.Frontiers in genetics · 2016Article
- Structural variation mutagenesis of the human genome: Impact on disease and evolution.Environmental and molecular mutagenesis · 2015Review
- Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.PLoS genetics · 2015Article
- Article
- Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion.Human genetics · 2014Article
- The genetics of microdeletion and microduplication syndromes: an update.Annual review of genomics and human genetics · 2014Review
Corrections and comments
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4 authors.
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Abstract
Insights into the origins of structural variation and the mutational mechanisms underlying genomic disorders would be greatly improved by a genomewide map of hotspots of nonallelic homologous recombination (NAHR). Moreover, our understanding of sequence variation within the duplicated sequences that are substrates for NAHR lags far behind that of sequence variation within the single-copy portion of the genome. Perhaps the best-characterized NAHR hotspot lies within the 24-kb-long Charcot-Marie-Tooth disease type 1A (CMT1A)-repeats (REPs) that sponsor deletions and duplications that cause peripheral neuropathies. We investigated structural and sequence diversity within the CMT1A-REPs, both within and between species. We discovered a high frequency of retroelement insertions, accelerated sequence evolution after duplication, extensive paralogous gene conversion, and a greater than twofold enrichment of SNPs in humans relative to the genome average. We identified an allelic recombination hotspot underlying the known NAHR hotspot, which suggests that the two processes are intimately related. Finally, we used our data to develop a novel method for inferring the location of an NAHR hotspot from sequence variation within segmental duplications and applied it to identify a putative NAHR hotspot within the LCR22 repeats that sponsor velocardiofacial syndrome deletions. We propose that a large-scale project to map sequence variation within segmental duplications would reveal a wealth of novel chromosomal-rearrangement hotspots.
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