ArticleProceedings of the National Academy of Sciences of the United States of America2012
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 61 citations in OpenAlex.
- Mitochondrial genome plasticity of mammalian species.BMC genomics · 2024Article
- Review
- The Role of Transposable Elements of the Human Genome in Neuronal Function and Pathology.International journal of molecular sciences · 2022Review
- Bioinformatics Approaches for Determining the Functional Impact of Repetitive Elements on Non-coding RNAs.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study.Human genomics · 2020Article
- The SINEB1 element in the long non-coding RNA Malat1 is necessary for TDP-43 proteostasis.Nucleic acids research · 2020Article
- Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.Journal of medical genetics · 2020Article
- LncRNAs in polyploid cotton interspecific hybrids are derived from transposon neofunctionalization.Genome biology · 2018Article
- A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.Brain : a journal of neurology · 2018Article
- Epigenetic mechanisms underlying nervous system diseases.Handbook of clinical neurology · 2018Review
- Peroxisome Proliferator Activated Receptor Agonists Modulate Transposable Element Expression in Brain and Liver.Frontiers in molecular neuroscience · 2018Article
- Contrasted patterns of evolution of the LINE-1 retrotransposon in perissodactyls: the history of a LINE-1 extinction.Mobile DNA · 2018Article
- Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.Journal of inherited metabolic disease · 2018Article
- Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.Scientific reports · 2017Article
- Review
- Roles for small noncoding RNAs in silencing of retrotransposons in the mammalian brain.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Retrotransposon-associated long non-coding RNAs in mice and men.Pflugers Archiv : European journal of physiology · 2016Review
- Evolutionary impact of transposable elements on genomic diversity and lineage-specific innovation in vertebrates.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2015Review
- Volatile evolution of long noncoding RNA repertoires: mechanisms and biological implications.Trends in genetics : TIG · 2014Review
- Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseases.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
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Authors and funding
24 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative disease locus in a genetic isolate. Complete DNA sequencing of the 400-kb linkage locus revealed a point mutation in a primate-specific retrotransposon that was transcribed as part of a unique noncoding RNA, which was expressed in the brain. In vitro knockdown of this RNA increased neuronal apoptosis, consistent with the inappropriate dosage of this RNA in vivo and with the phenotype. Moreover, structural analysis of the sequence revealed a small RNA-like hairpin that was consistent with the putative gain of a functional site when mutated. We show here that a mutation in a unique transposable element-containing RNA is associated with lethal encephalopathy, and we suggest that RNAs that harbor evolutionarily recent repetitive elements may play important roles in human brain development.
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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.