ArticleMolecular and cellular biology2009
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
Article in Molecular and cellular biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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Who cites it
81 citing papers in PubMed, 121 citations in OpenAlex.
- Genome-wide association study of paediatric bacteraemia and sepsis.EBioMedicine · 2026Article
- tRNA modifications: greasing the wheels of translation and beyond.RNA biology · 2025Review
- An Elongator mouse model of ALS spotlights TDP-43 in the motor neuron nucleolus.Communications biology · 2025Article
- Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target.Cancer cell · 2025Article
- Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
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- Cryo-EM structures of the human Elongator complex at work.Nature communications · 2024Article
- Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.Scientific reports · 2024Article
- A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.Journal of human genetics · 2023Article
- The life and times of a tRNA.RNA (New York, N.Y.) · 2023Review
- Elongator regulates the melanocortin satiety pathway.Biochemical and biophysical research communications · 2022Article
- Functional divergence of the two Elongator subcomplexes during neurodevelopment.EMBO molecular medicine · 2022Article
- The importance of RNA modifications: From cells to muscle physiology.Wiley interdisciplinary reviews. RNA · 2022Review
- Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.Journal of genetics and genomics = Yi chuan xue bao · 2022Article
- Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.eLife · 2022Article
- Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.Human molecular genetics · 2022Article
- Elp1 is required for development of visceral sensory peripheral and central circuitry.Disease models & mechanisms · 2022Article
- AtELP4 a subunit of the Elongator complex inFrontiers in plant science · 2022Article
- Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation.Journal of biomedical science · 2021Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial dysautonomia (FD), a devastating hereditary sensory and autonomic neuropathy, results from an intronic mutation in the IKBKAP gene that disrupts normal mRNA splicing and leads to tissue-specific reduction of IKBKAP protein (IKAP) in the nervous system. To better understand the roles of IKAP in vivo, an Ikbkap knockout mouse model was created. Results from our study show that ablating Ikbkap leads to embryonic lethality, with no homozygous Ikbkap knockout (Ikbkap(-)(/)(-)) embryos surviving beyond 12.5 days postcoitum. Morphological analyses of the Ikbkap(-)(/)(-) conceptus at different stages revealed abnormalities in both the visceral yolk sac and the embryo, including stunted extraembryonic blood vessel formation, delayed entry into midgastrulation, disoriented dorsal primitive neural alignment, and failure to establish the embryonic vascular system. Further, we demonstrate downregulation of several genes that are important for neurulation and vascular development in the Ikbkap(-)(/)(-) embryos and show that this correlates with a defect in transcriptional elongation-coupled histone acetylation. Finally, we show that the embryonic lethality resulting from Ikbkap ablation can be rescued by a human IKBKAP transgene. For the first time, we demonstrate that IKAP is crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human.
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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.