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Related Concept Videos

The Nucleolus02:55

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The nucleolus is the most prominent substructure of the nucleus. When it was first discovered, it was considered to be an isolated organelle that forms fibrils and granules. In 1931, the relationship between the nucleolus and chromosomes was first described by Heitz. He observed that the appearance and size of nucleolus varies depending on the stage of the cell cycle. He also noticed constricted regions on different chromosomes clustered together at definite cell cycle stages. These regions,...
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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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At the transition from prophase to metaphase, there is a reduction in cohesion along the chromosomal arms, resulting in the resolution of sister chromatids. However, residual cohesin connections remain to hold the sister chromatids together until the transition from metaphase to anaphase. The residual connection prevents any premature separation of sister chromatids, blocking the risks of aneuploidy within the daughter cells.
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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Martin A Mensah1,2,3, Henri Niskanen4, Alexandre P Magalhaes4

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Genetic variants in intrinsically disordered protein regions can disrupt biomolecular condensates like the nucleolus. This study links specific variants to a rare syndrome by altering protein phase separation and causing nucleolar dysfunction.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Thousands of genetic variants are linked to disease, but their functional impact is often unknown, especially within intrinsically disordered protein regions.
  • Intrinsically disordered regions play roles in crucial cellular processes like phase separation and the formation of biomolecular condensates, such as the nucleolus.

Purpose of the Study:

  • To investigate how disease-associated variants in intrinsically disordered protein regions affect phase separation, condensate localization, and cellular function.
  • To identify the genetic cause of brachyphalangy, polydactyly, and tibial aplasia syndrome.

Main Methods:

  • Cataloging over 200,000 variants in disordered protein tails.
  • Analyzing frameshift variants that create arginine-rich tails in transcription factors.
  • Assessing the impact of variants on protein phase separation, nucleolar partitioning, and rRNA biogenesis.

Main Results:

  • Discovered de novo frameshift variants in HMGB1 causing brachyphalangy, polydactyly, and tibial aplasia syndrome.
  • These variants alter HMGB1 phase separation, enhance its partitioning into the nucleolus, and disrupt nucleolar function.
  • Identified over 600 frameshifts creating arginine-rich tails in various proteins, with many disease-associated variants enhancing nucleolar partitioning and altering rRNA biogenesis.

Conclusions:

  • Disease-associated variants in intrinsically disordered regions can dysregulate biomolecular condensate function, leading to rare syndromes.
  • A significant number of genetic variants may impact nucleoli and other condensates, contributing to human diseases.
  • Identified the specific genetic cause of brachyphalangy, polydactyly, and tibial aplasia syndrome through analysis of HMGB1 variants.