ArticleMolecular cytogenetics2012
A recurrent translocation is mediated by homologous recombination between HERV-H elements.
Article in Molecular cytogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- HERV activation segregates ME/CFS from fibromyalgia while defining a novel nosologic entity.eLife · 2025Article
- An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development.Molecular psychiatry · 2023Article
- Roles of homologous recombination in response to ionizing radiation-induced DNA damage.International journal of radiation biology · 2023Review
- Expressional activation and functional roles of human endogenous retroviruses in cancers.Reviews in medical virology · 2019Review
- Human Structural Variation: Mechanisms of Chromosome Rearrangements.Trends in genetics : TIG · 2015Review
- Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Genome research · 2015Article
- Genome architecture and its roles in human copy number variation.Genomics & informatics · 2014Review
- Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.BMC biology · 2014Article
- Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.BMC medical 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
- Mouse model implicates GNB3 duplication in a childhood obesity syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Are human endogenous retroviruses pathogenic? An approach to testing the hypothesis.BioEssays : news and reviews in molecular, cellular and developmental biology · 2013Review
- Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Genome research · 2013Article
- Mechanisms of Gene Duplication and Translocation and Progress towards Understanding Their Relative Contributions to Animal Genome Evolution.International journal of evolutionary biology · 2012Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundChromosome rearrangements are caused by many mutational mechanisms; of these, recurrent rearrangements can be particularly informative for teasing apart DNA sequence-specific factors. Some recurrent translocations are mediated by homologous recombination between large blocks of segmental duplications on different chromosomes. Here we describe a recurrent unbalanced translocation casued by recombination between shorter homologous regions on chromosomes 4 and 18 in two unrelated children with intellectual disability.
resultsArray CGH resolved the breakpoints of the 6.97-Megabase (Mb) loss of 18q and the 7.30-Mb gain of 4q. Sequencing across the translocation breakpoints revealed that both translocations occurred between 92%-identical human endogenous retrovirus (HERV) elements in the same orientation on chromosomes 4 and 18. In addition, we find sequence variation in the chromosome 4 HERV that makes one allele more like the chromosome 18 HERV.
conclusionsHomologous recombination between HERVs on the same chromosome is known to cause chromosome deletions, but this is the first report of interchromosomal HERV-HERV recombination leading to a translocation. It is possible that normal sequence variation in substrates of non-allelic homologous recombination (NAHR) affects the alignment of recombining segments and influences the propensity to chromosome rearrangement.
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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.