ArticleAmerican journal of human genetics1998
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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Who cites it
64 citing papers in PubMed, 177 citations in OpenAlex.
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- Copy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.Internal medicine (Tokyo, Japan) · 2025Article
- Evolutionary Nonindependence Between Human piRNAs and Their Potential Target Sites in Protein-Coding Genes.Journal of molecular evolution · 2025Article
- Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.Cell genomics · 2024Article
- Microhomology-mediated repair machinery and its relationship with HPV-mediated oncogenesis.Journal of medical virology · 2024Review
- Contribution of Microhomology to Genome Instability: Connection between DNA Repair and Replication Stress.International journal of molecular sciences · 2022Review
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- Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.Genome medicine · 2019Article
- Predicting human genes susceptible to genomic instability associated withGenome research · 2018Article
- Duplication of chicken defensin7 gene generated by gene conversion and homologous recombination.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- 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
- De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.Scientific reports · 2016Article
- Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Human molecular genetics · 2015Article
- Crossing-over in a hypervariable species preferentially occurs in regions of high local similarity.Molecular biology and evolution · 2014Article
- Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.BMC biology · 2014Article
- The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.American journal of human genetics · 2014Article
- The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.PLoS genetics · 2014Article
- Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.Human mutation · 2013Article
- Nucleotide resolution analysis of TMPRSS2 and ERG rearrangements in prostate cancer.The Journal of pathology · 2013Article
4 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
The HNPP (hereditary neuropathy with liability to pressure palsies) deletion and CMT1A (Charcot-Marie-Tooth disease type 1A) duplication are the reciprocal products of homologous recombination events between misaligned flanking CMT1A-REP repeats on chromosome 17p11. 2-p12. A 1.7-kb hotspot for homologous recombination was previously identified wherein the relative risk of an exchange event is 50 times higher than in the surrounding 98.7% identical sequence shared by the CMT1A-REPs. To refine the region of exchange further, we designed a PCR strategy to amplify the recombinant CMT1A-REP from HNPP patients as well as the proximal and distal CMT1A-REPs from control individuals. By comparing the sequences across recombinant CMT1A-REPs to that of the proximal and distal CMT1A-REPs, the exchange was mapped to a 557-bp region within the previously identified 1.7-kb hotspot in 21 of 23 unrelated HNPP deletion patients. Two patients had recombined sequences suggesting an exchange event closer to the mariner-like element previously identified near the hotspot. Five individuals also had interspersed patches of proximal or distal repeat specific DNA sequence indicating potential gene conversion during the exchange of genetic material. Our studies provide a direct observation of human meiotic recombination products. These results are consistent with the hypothesis that minimum efficient processing segments, which have been characterized in Escherichia coli, yeast, and cultured mammalian cells, may be required for efficient homologous meiotic recombination in humans.
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