Related Experiment Video
Updated: Jul 11, 2026
Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
Published on: March 10, 2023
[From gene to disease; JAK2 and polycythaemia vera]
H R Koene1, B J Biemond, C E van der Schoot
1Academisch Medisch Centrum/Universiteit van Amsterdam, afd. Inwendige Geneeskunde, Amsterdam. h.r.koene@amc.uva.nl
Abstract:
The identification of a point mutation in the JAK2 gene in most patients with polycythaemia vera (PV) has led to increased insight into the pathogenesis of the disease. The mutation causes cytokine-independent growth and proliferation of haematopoietic precursor cells, leading to erythrocytosis. The JAK2-V617F mutation is present in 65-97% of PV-patients and, when found, is indicative for the disease. Future research will have to show if the mutated gene can serve as a target for specific, antiproliferative therapy.
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