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Related Concept Videos

Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

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Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
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Complex microtubule structures are present in resting cells and in dividing cells. In resting cells, they are responsible for maintaining the cellular architecture, tracks for intracellular transport, positioning of organelles, assembly of cilia and flagella. They mediate the bipolar spindle assembly for chromosomal segregation and positioning of the cell division plate in dividing cells. The formation of microtubule complex structures depends on the cell type, cell stage, and cell function.
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Neurulation01:30

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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Transcription elongation is a dynamic process that alters depending upon the sequence heterogeneity of the DNA being transcribed. Hence, it is not surprising that the elongation complex's composition also varies along the way while transcribing a gene.
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Intermediate filaments are cytoskeletal proteins with higher tensile strength and flexibility than microfilaments and microtubules. Unlike the other two cytoskeletal proteins, intermediate filament formation lacks the enzymatic activity to hydrolyze nucleotides like ATP and GTP to generate energy for polymerization. Therefore, the formation of intermediate filaments is multistep self-assembly. The involvement of any accessory proteins in intermediate filament formation has not yet been...
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Related Experiment Video

Updated: Sep 8, 2025

Genetic Manipulation of Cerebellar Granule Neurons In Vitro and In Vivo to Study Neuronal Morphology and Migration
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Functional divergence of the two Elongator subcomplexes during neurodevelopment.

Monika Gaik1, Marija Kojic2, Megan R Stegeman2

  • 1Malopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland.

EMBO Molecular Medicine
|June 14, 2022
PubMed
Summary

Mutations in the Elongator complex

Keywords:
Elongator complexElp4Elp6neurodevelopmenttRNA modification

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Area of Science:

  • Molecular Biology
  • Neuroscience
  • Genetics

Background:

  • The Elongator complex is crucial for neurodevelopment and is implicated in neurological disorders.
  • While mutations in the Elp123 subcomplex are known, the Elp456 subcomplex has not been linked to human disease.
  • Understanding Elongator's role in neurological conditions is vital for developing therapeutic strategies.

Purpose of the Study:

  • To investigate the role of the Elp456 subcomplex in human neurological disorders.
  • To identify and characterize mutations in ELP4 and ELP6 genes.
  • To elucidate the functional consequences of these mutations on Elongator complex activity and neurodevelopment.

Main Methods:

  • Identifying ELP4 and ELP6 variants in patients with neurological conditions.
  • Determining the structures of human and murine Elp456 subcomplexes.
  • Assessing tRNA modification activity in vitro and in cellular models.
  • Modeling pathogenic variants in mice to study neuropathology.

Main Results:

  • Identified ELP4 and ELP6 variants in patients with developmental delay, epilepsy, intellectual disability, and motor dysfunction.
  • Determined the structures of Elp456 subcomplexes, locating mutated residues.
  • Demonstrated that patient-derived Elp456 mutations impair Elongator's tRNA modification activity.
  • Mouse models with pathogenic variants recapitulated human clinical features and revealed distinct neuropathology.

Conclusions:

  • Directly links Elp4 and Elp6 mutations to reduced Elongator activity and neurological defects.
  • Highlights previously unrecognized differences between Elp123 and Elp456 subcomplexes in tRNA modification.
  • Establishes the Elp456 subcomplex as a significant player in neurodevelopment and associated disorders.