ArticleProceedings of the National Academy of Sciences of the United States of America2007
Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35 citing papers in PubMed, 50 citations in OpenAlex.
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- Genetic cold cases: lessons from solving complex congenital limb disorders.Genes & development · 2023Review
- Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report.Frontiers in genetics · 2023Article
- Mouse strain-specific polymorphic provirus functions as cis-regulatory element leading to epigenomic and transcriptomic variations.Nature communications · 2021Article
- Variably methylated retrotransposons are refractory to a range of environmental perturbations.Nature genetics · 2021Article
- Dissection of the Fgf8 regulatory landscape by in vivo CRISPR-editing reveals extensive intra- and inter-enhancer redundancy.Nature communications · 2021Article
- KRAB zinc finger protein diversification drives mammalian interindividual methylation variability.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Review
- KRAB-zinc finger protein gene expansion in response to active retrotransposons in the murine lineage.eLife · 2020Article
- Ectopic expression of the Stabilin2 gene triggered by an intracisternal A particle (IAP) element in DBA/2J strain of mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2020Article
- Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.Molecular syndromology · 2020Article
- Mouse germ line mutations due to retrotransposon insertions.Mobile DNA · 2019Review
- Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.Journal of human genetics · 2017Article
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3 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Dactylaplasia, characterized by missing central digital rays, is an inherited mouse limb malformation that depends on two genetic loci. The first locus, Dac, is an insertional mutation around the dactylin gene that is inherited as a semidominant trait. The second locus is an unlinked modifier, mdac/Mdac, that is polymorphic among inbred strains. Mdac dominantly suppresses the dactylaplasia phenotype in mice carrying Dac. However, little is known about either locus or the nature of their interaction. Here we show that Dac is a LTR retrotransposon insertion caused by the type D mouse endogenous provirus element (MusD). This insertion exhibits different epigenetic states and spatiotemporally expresses depending on the mdac/Mdac modifier background. In dactylaplasia mutants (Dac/+ mdac/mdac), the LTRs of the insertion contained unmethylated CpGs and active chromatin. Furthermore, MusD elements expressed ectopically at the apical ectodermal ridge of limb buds, accompanying the dactylaplasia phenotype. On the other hand, in Dac mutants carrying Mdac (Dac/+ Mdac/mdac), the 5' LTR of the insertion was heavily methylated and enriched with inactive chromatin, correlating with inhibition of the dactylaplasia phenotype. Ectopic expression was not observed in the presence of Mdac, which we refined to a 9.4-Mb region on mouse chromosome 13. We report a pathogenic mutation caused by MusD. Our findings indicate that ectopic expression from the MusD insertion correlates with the dactylaplasia phenotype and that Mdac acts as a defensive factor to protect the host genome from pathogenic MusD insertions.
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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.