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Related Concept Videos

Translation01:31

Translation

Lesson: Translation
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.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
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.
Translation Produces the Building Blocks of Life
Leaky Scanning02:28

Leaky Scanning

During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R stands for...
RNA Splicing01:32

RNA Splicing

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...
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency disorders...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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Related Experiment Video

Updated: May 9, 2026

Genome-wide Analysis of HDAC Inhibitor-mediated Modulation of microRNAs and mRNAs in B Cells Induced to Undergo Class-switch DNA Recombination and Plasma Cell Differentiation
11:06

Genome-wide Analysis of HDAC Inhibitor-mediated Modulation of microRNAs and mRNAs in B Cells Induced to Undergo Class-switch DNA Recombination and Plasma Cell Differentiation

Published on: September 20, 2017

Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variants.

Nidia Moreno-Corona1, Alice Valagussa1,2, Lucie Poggi1

  • 1Laboratory of Human Lymphohematopoiesis, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.

Journal of Human Immunity
|May 8, 2026
PubMed
Summary

Genetic variants in the WDR75 gene were identified in a patient with hypogammaglobulinemia and autism. These variants may contribute to nucleolar stress and impact ribosome assembly, potentially linking WDR75 to these conditions.

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Published on: August 20, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Cell Biology

Background:

  • Ribosomopathies are rare genetic disorders affecting ribosome production and function.
  • A patient presented with hypogammaglobulinemia and autism spectrum disorder, prompting genetic investigation.

Purpose of the Study:

  • To investigate the genetic basis of the patient's condition.
  • To explore the functional consequences of identified genetic variants in WDR75.

Main Methods:

  • Genetic analysis to identify causative variants.
  • Functional studies using patient-derived cells and CRISPR/Cas9 modified cell lines.
  • Analysis of pre-ribosomal RNA (pre-rRNA) processing and gene expression (p21).

Main Results:

  • Compound-heterozygous variants in the WDR75 gene were identified.
  • Altered pre-rRNA processing (A0 cleavage) was observed.
  • Increased p21 expression suggested nucleolar stress and p53 pathway activation.

Conclusions:

  • The findings suggest a potential association between WDR75 variants and nucleolar stress.
  • This nucleolar stress may contribute to the patient's clinical presentation of hypogammaglobulinemia and autism spectrum disorder.
  • Further research is needed to establish causality.