ArticleGenome research2012
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease.
Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 34 citations in OpenAlex.
- Review
- Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.Nature communications · 2023Article
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing.Nature communications · 2022Article
- Gene Conversion Facilitates the Adaptive Evolution of Self-Resistance in Highly Toxic Newts.Molecular biology and evolution · 2021Article
- Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.Human mutation · 2021Article
- Adaptive Changes in Hemoglobin Function in High-Altitude Tibetan Canids Were Derived via Gene Conversion and Introgression.Molecular biology and evolution · 2019Article
- Frequent nonallelic gene conversion on the human lineage and its effect on the divergence of gene duplicates.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- The Genomic Impact of Gene Retrocopies: What Have We Learned from Comparative Genomics, Population Genomics, and Transcriptomic Analyses?Genome biology and evolution · 2017Article
- ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.Brain : a journal of neurology · 2017Article
- Interlocus gene conversion explains at least 2.7% of single nucleotide variants in human segmental duplications.BMC genomics · 2015Article
- Intraspecific polymorphism, interspecific divergence, and the origins of function-altering mutations in deer mouse hemoglobin.Molecular biology and evolution · 2015Article
- Purifying selection against gene conversions between the polyamine transport (TPO) genes of Saccharomyces species.Current genetics · 2015Article
- Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles.American journal of human genetics · 2014Article
- Interplay of interlocus gene conversion and crossover in segmental duplications under a neutral scenario.G3 (Bethesda, Md.) · 2014Article
- Repeated evolution of chimeric fusion genes in the β-globin gene family of laurasiatherian mammals.Genome biology and evolution · 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
- Hard selective sweep and ectopic gene conversion in a gene cluster affording environmental adaptation.PLoS genetics · 2013Article
- A systematic survey of loss-of-function variants in human protein-coding genes.Science (New York, N.Y.) · 2012Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Establishing the molecular basis of DNA mutations that cause inherited disease is of fundamental importance to understanding the origin, nature, and clinical sequelae of genetic disorders in humans. The majority of disease-associated mutations constitute single-base substitutions and short deletions and/or insertions resulting from DNA replication errors and the repair of damaged bases. However, pathological mutations can also be introduced by nonreciprocal recombination events between paralogous sequences, a phenomenon known as interlocus gene conversion (IGC). IGC events have thus far been linked to pathology in more than 20 human genes. However, the large number of duplicated gene sequences in the human genome implies that many more disease-associated mutations could originate via IGC. Here, we have used a genome-wide computational approach to identify disease-associated mutations derived from IGC events. Our approach revealed hundreds of known pathological mutations that could have been caused by IGC. Further, we identified several dozen high-confidence cases of inherited disease mutations resulting from IGC in ∼1% of all genes analyzed. About half of the donor sequences associated with such mutations are functional paralogous genes, suggesting that epistatic interactions or differential expression patterns will determine the impact upon fitness of specific substitutions between duplicated genes. In addition, we identified thousands of hitherto undescribed and potentially deleterious mutations that could arise via IGC. Our findings reveal the extent of the impact of interlocus gene conversion upon the spectrum of human inherited disease.
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