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Related Concept Videos

The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

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...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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Related Experiment Video

Updated: Jun 24, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
12:40

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

Published on: December 7, 2014

Somatic and germline genetics at the JAK2 locus.

Peter J Campbell1

  • 1Wellcome Trust Sanger Institute, Hinxton, UK. pc8@sanger.ac.uk

Nature Genetics
|April 2, 2009
PubMed
Summary

Myeloproliferative neoplasms, cancers of the blood, are linked to JAK2 gene mutations. These mutations often occur on a specific inherited JAK2 genetic type, suggesting a connection between inherited and acquired genetics.

Area of Science:

  • Hematology
  • Genetics
  • Oncology

Background:

  • Myeloproliferative neoplasms (MPNs) are a group of blood cancers.
  • Somatic mutations in the Janus kinase 2 (JAK2) gene are common in MPNs.
  • The specific inherited genetic background influencing JAK2 mutations is not well understood.

Discussion:

  • This study investigates the relationship between inherited JAK2 haplotypes and acquired JAK2 mutations in MPNs.
  • Findings indicate that JAK2 mutations are not randomly distributed but are preferentially associated with a particular JAK2 haplotype.
  • This suggests a significant interaction between germline genetics and somatic mutations at the JAK2 locus.

Key Insights:

  • A specific inherited JAK2 haplotype is strongly associated with the acquisition of JAK2 mutations in myeloproliferative neoplasms.

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Time-resolved Förster Resonance Energy Transfer Assays for Measurement of Endogenous Phosphorylated STAT Proteins in Human Cells

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Last Updated: Jun 24, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
12:40

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors

Published on: December 7, 2014

Time-resolved Förster Resonance Energy Transfer Assays for Measurement of Endogenous Phosphorylated STAT Proteins in Human Cells
07:12

Time-resolved Förster Resonance Energy Transfer Assays for Measurement of Endogenous Phosphorylated STAT Proteins in Human Cells

Published on: September 9, 2021

  • This finding highlights the role of germline genetic predisposition in the development of these hematological malignancies.
  • The interaction between germline and somatic genetics at the JAK2 locus is a critical factor in MPN pathogenesis.

    • Outlook:

    • Further research is needed to characterize the specific mechanisms underlying this gene-gene interaction.
    • Understanding this interplay could lead to novel diagnostic or therapeutic strategies for MPNs.
    • Investigating other genetic loci for similar germline-somatic interactions may reveal broader insights into cancer development.