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Related Concept Videos

Ribosomal RNA Synthesis02:53

Ribosomal RNA Synthesis

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Ribosome synthesis is a highly complex and coordinated process involving more than 200 assembly factors. The synthesis and processing of ribosomal components occurs not only in the nucleolus but also in the nucleoplasm and the cytoplasm of eukaryotic cells.
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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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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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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Ribosome heterogeneity arising from common and rare rRNA sequence variants affects diverse human phenotypes.

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Ribosomal RNA (rRNA) variations influence human health, with common variants creating ribosome subtypes affecting physiology and rare mutations linked to diseases. This study reveals the functional importance of rRNA Expansion-Segments (ESs).

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Area of Science:

  • Genetics
  • Molecular Biology
  • Human Physiology

Background:

  • Ribosomal RNA (rRNA) genes display high variability, with unclear roles in human health and disease.
  • Expansion-Segments (ESs) are poorly understood rRNA regions crucial for ribosome function.

Purpose of the Study:

  • To investigate the impact of rRNA variants on human physiology and disease.
  • To analyze rRNA variations within the UK Biobank population.

Main Methods:

  • Development of the Ribosome-Variation-Analysis (RiboVAn) method.
  • Analysis of rRNA variants, including common variations and rare mutations.
  • Heritability and burden analyses of identified rRNA variants.

Main Results:

  • Common rRNA variations define heritable 'ribosome subtypes' influencing human physiology.
  • Rare rRNA mutations are linked to various diseases, including cancer and myocardial infarction.
  • Specific rRNA variants in ESs (es15l, es39l, es27l) correlate with traits like adiposity, body dimensions, and blood disorders.

Conclusions:

  • rRNA variation causally links to human traits and diseases.
  • Expansion-Segments (ESs) possess distinct and significant roles in human physiology.
  • Ribosome subtypes are heritable, while rRNA mutations show lower heritability.