ArticleHuman mutation2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 65 citations in OpenAlex.
- Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Trial
- Identification of gene conversion events in horse IGHV suggests preferential hotspots for diversification.Immunogenetics · 2026Article
- Biophysical characterization of the DNA binding motif of human phospholipid scramblase 1.European biophysics journal : EBJ · 2022Article
- Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.Biomedicines · 2022Review
- Distinct sequence features underlie microdeletions and gross deletions in the human genome.Human mutation · 2022Article
- Non-B DNA: a major contributor to small- and large-scale variation in nucleotide substitution frequencies across the genome.Nucleic acids research · 2021Article
- Centromeres under Pressure: Evolutionary Innovation in Conflict with Conserved Function.Genes · 2020Review
- Heterogeneity of the Epstein-Barr Virus (EBV) Major Internal Repeat Reveals Evolutionary Mechanisms of EBV and a Functional Defect in the Prototype EBV Strain B95-8.Journal of virology · 2017Article
- A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient.Molecular genetics and genomics : MGG · 2017Article
- Oyster RNA-seq Data Support the Development ofFrontiers in microbiology · 2017Article
- Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation.Nucleic acids research · 2014Article
- 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
- Article
- DHX9 helicase is involved in preventing genomic instability induced by alternatively structured DNA in human cells.Nucleic acids research · 2013Article
- NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.Genome research · 2013Article
- Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes.Human genomics · 2012Article
- Evolution of siglec-11 and siglec-16 genes in hominins.Molecular biology and evolution · 2012Article
- Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease.Genome research · 2012Article
- Gene Conversion-Like Events in the Diversification of Human Rearranged IGHV3-23*01 Gene Sequences.Frontiers in immunology · 2012Article
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7 authors at 7 institutions in 4 countries.
Funding
Abstract
A variety of DNA sequence motifs including inverted repeats, minisatellites, and the chi recombination hotspot, have been reported in association with gene conversion in human genes causing inherited disease. However, no methodical statistically based analysis has been performed to formalize these observations. We have performed an in silico analysis of the DNA sequence tracts involved in 27 nonoverlapping gene conversion events in 19 different genes reported in the context of inherited disease. We found that gene conversion events tend to occur within (C+G)- and CpG-rich regions and that sequences with the potential to form non-B-DNA structures, and which may be involved in the generation of double-strand breaks that could, in turn, serve to promote gene conversion, occur disproportionately within maximal converted tracts and/or short flanking regions. Maximal converted tracts were also found to be enriched (P<0.01) in a truncated version of the chi-element (a TGGTGG motif), immunoglobulin heavy chain class switch repeats, translin target sites and several novel motifs including (or overlapping) the classical meiotic recombination hotspot, CCTCCCCT. Finally, gene conversions tend to occur in genomic regions that have the potential to fold into stable hairpin conformations. These findings support the concept that recombination-inducing motifs, in association with alternative DNA conformations, can promote recombination in the human genome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.