ArticleProceedings of the National Academy of Sciences of the United States of America2015
Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 53 citations in OpenAlex.
- Article
- Autophosphorylation of conserved yeast and human casein kinase 1 isozymes regulates Elongator-dependent tRNA modifications.Nucleic acids research · 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
- ZmELP1, an Elongator complex subunit, is required for the maintenance of histone acetylation and RNA Pol II phosphorylation in maize kernels.Plant biotechnology journal · 2024Article
- A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.Journal of human genetics · 2023Article
- Cryo-EM structure of the fully assembled Elongator complex.Nucleic acids research · 2023Article
- Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex.eLife · 2022Article
- Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.eLife · 2022Article
- Transposon insertional mutagenesis of diverse yeast strains suggests coordinated gene essentiality polymorphisms.Nature communications · 2022Article
- Biochemical and Structural Characterization of Human Core Elongator and Its Subassemblies.ACS omega · 2022Article
- Emerging Roles of Gemin5: From snRNPs Assembly to Translation Control.International journal of molecular sciences · 2020Review
- Review
- Structural basis for the dimerization of Gemin5 and its role in protein recruitment and translation control.Nucleic acids research · 2020Article
- Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression.Nature communications · 2019Article
- Molecular basis of tRNA recognition by the Elongator complex.Science advances · 2019Article
- Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.PloS one · 2019Article
- Roles of Elongator Dependent tRNA Modification Pathways in Neurodegeneration and Cancer.Genes · 2018Review
- Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.Nucleic acids research · 2018Article
- Structural insights into the function of Elongator.Cellular and molecular life sciences : CMLS · 2018Review
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The evolutionarily conserved Elongator complex, which is composed of six subunits elongator protein 1 (Elp1 to -6), plays vital roles in gene regulation. The molecular hallmark of familial dysautonomia (FD) is the splicing mutation of Elp1 [also known as IκB kinase complex-associated protein (IKAP)] in the nervous system that is believed to be the primary cause of the devastating symptoms of this disease. Here, we demonstrate that disease-related mutations in Elp1 affect Elongator assembly, and we have determined the structure of the C-terminal portion of human Elp1 (Elp1-CT), which is sufficient for full-length Elp1 dimerization, as well as the structure of the cognate dimerization domain of yeast Elp1 (yElp1-DD). Our study reveals that the formation of the Elp1 dimer contributes to its stability in vitro and in vivo and is required for the assembly of both the human and yeast Elongator complexes. Functional studies suggest that Elp1 dimerization is essential for yeast viability. Collectively, our results identify the evolutionarily conserved dimerization domain of Elp1 and suggest that the pathological mechanisms underlying the onset and progression of Elp1 mutation-related disease may result from impaired Elongator activities.
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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.