ArticleGenes to cells : devoted to molecular & cellular mechanisms2021
The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.
Article in Genes to cells : devoted to molecular & cellular mechanisms, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- Virus-Derived Domesticated Genes in Microglia and Resident Macrophages: Insights into Placenta-Driven Evolution in Mammals.International journal of molecular sciences · 2026Review
- Placenta-Driven Evolution: Viral Gene Acquisition andBiomolecules · 2026Review
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- Genetic Factors Related to the Development or Progression of Mesoamerican Endemic Nephropathy.International journal of molecular sciences · 2025Review
- Targeting of retrovirus-derivedOpen biology · 2025Article
- Article
- Copy-number dosage regulates telomere maintenance and disease-associated pathways in neuroblastoma.iScience · 2024Article
- Review
- The Diverse Evolutionary Histories of Domesticated Metaviral Capsid Genes in Mammals.Molecular biology and evolution · 2024Article
- Retrovirus-DerivedInternational journal of molecular sciences · 2023Article
- Retrovirus-Derived RTL/SIRH: Their Diverse Roles in the Current Eutherian Developmental System and Contribution to Eutherian Evolution.Biomolecules · 2023Review
- The diverse evolutionary histories of domesticated metaviral capsid genes in mammals.bioRxiv : the preprint server for biology · 2023Article
- Early-life exercise primes the murine neural epigenome to facilitate gene expression and hippocampal memory consolidation.Communications biology · 2023Article
- Epigenetic control and genomic imprinting dynamics of the Dlk1-Dio3 domain.Frontiers in cell and developmental biology · 2023Review
- Roles of retrovirus-derivedFrontiers in cell and developmental biology · 2023Review
- Retrovirus-derived RTL5 and RTL6 genes are novel constituents of the innate immune system in the eutherian brain.Development (Cambridge, England) · 2022Article
- RTL1/PEG11 imprinted in human and mouse brain mediates anxiety-like and social behaviors and regulates neuronal excitability in the locus coeruleus.Human molecular genetics · 2022Article
- Epigenome editing reveals core DNA methylation for imprinting control in the Dlk1-Dio3 imprinted domain.Nucleic acids research · 2022Article
- The Evolutionary Advantage in Mammals of the Complementary Monoallelic Expression Mechanism of Genomic Imprinting and Its Emergence From a Defense Against the Insertion Into the Host Genome.Frontiers in genetics · 2022Review
- PEG10 viral aspartic protease domain is essential for the maintenance of fetal capillary structure in the mouse placenta.Development (Cambridge, England) · 2021Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
RTL1 (also termed paternal expressed 11 (PEG11)) is considered the major imprinted gene responsible for the placental and fetal/neonatal muscle defects that occur in the Kagami-Ogata and Temple syndromes (KOS14 and TS14, respectively). However, it remains elusive whether RTL1 is also involved in their neurological symptoms, such as behavioral and developmental delay/intellectual disability, feeding difficulties, motor delay, and delayed speech. Here, we demonstrate that the mouse RTL1 protein is widely expressed in the central nervous system (CNS), including the limbic system. Importantly, two disease model mice with over- and under-expression of Rtl1 exhibited reduced locomotor activity, increased anxiety, and impaired amygdala-dependent cued fear, demonstrating that Rtl1 also plays an important role in the CNS. These results indicate that the KOS14 and TS14 are neuromuscular as well as neuropsychiatric diseases caused by irregular CNS RTL1 expression, presumably leading to impaired innervation of motor neurons to skeletal muscles as well as malfunction of the hippocampus-amygdala complex. It is of considerable interest that eutherian-specific RTL1 is expressed in mammalian- and eutherian-specific brain structures, that is, the corticospinal tract and corpus callosum, respectively, suggesting that RTL1 might have contributed to the acquisition of both these structures themselves and fine motor skill in eutherian brain evolution.
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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.