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Related Concept Videos

The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

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Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
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Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Mismatch Repair01:20

Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

42
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Epistasis Analysis01:09

Epistasis Analysis

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Related Experiment Video

Updated: Jul 31, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their

Nils Ott1, Laura Faletti2, Maximilian Heeg2,3

  • 1Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. nils.ott@uniklinik-freiburg.de.

Journal of Clinical Immunology
|May 4, 2023
PubMed
Summary

Mutations in JAK/STAT pathway genes like STAT1, STAT3, STAT6, JAK1, and JAK3 cause complex clinical syndromes. This review details their mechanisms, symptoms, and treatments.

Keywords:
AutoimmunityAutoinflammationClinical phenotypeGain-of-function mutationsImmunodeficiencyInborn errors of immunityJAK/STAT signaling pathwayJAK1JAK3Loss-of-function mutationsSTAT1STAT3STAT6

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Area of Science:

  • Immunology
  • Molecular Biology
  • Genetics

Background:

  • The Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway is crucial for cytokine signaling, impacting development, immunity, and cancer.
  • While seemingly simple, the JAK/STAT pathway's complexity arises from diverse cytokines, receptors, JAK/STAT specificities, and regulatory elements, making it susceptible to mutations.

Approach:

  • This review synthesizes clinical perspectives on JAK/STAT pathway disorders.
  • It summarizes current knowledge on the pathomechanisms, clinical symptoms, immunological characteristics, and therapeutic strategies for specific syndromes caused by mutations in STAT1, STAT3, STAT6, JAK1, and JAK3.

Key Points:

  • Gain-of-function and loss-of-function mutations in STAT1, STAT3, STAT6, JAK1, and JAK3 lead to distinct clinical phenotypes.
  • The traditional view of loss-of-function mutations causing immunodeficiency and gain-of-function mutations causing autoimmunity is challenged by a more nuanced understanding of disease patterns.

Conclusions:

  • Understanding these JAK/STAT pathway genetic disorders is vital for advancing personalized medicine.
  • Further research into these syndromes offers potential for novel therapeutic interventions beyond current JAK inhibitors.