PUBLICATION

Leukemia-associated truncation of granulocyte colony-stimulating factor receptor impacts granulopoiesis throughout the life-course

Authors
Bulleeraz, V., Goy, M., Basheer, F., Liongue, C., Ward, A.C.
ID
ZDB-PUB-230128-1
Date
2023
Source
Frontiers in immunology   13: 10954531095453 (Journal)
Registered Authors
Liongue, Clifford, Ward, Alister C.
Keywords
G-CSFR, cytokine receptors, leukemia, neutropenia, zebrafish
MeSH Terms
  • Animals
  • Hematopoiesis*/genetics
  • Leukemia, Myeloid, Acute/genetics
  • Leukopoiesis/genetics
  • Receptors, Granulocyte Colony-Stimulating Factor*/genetics
  • Zebrafish
PubMed
36703974 Full text @ Front Immunol
Abstract
The granulocyte colony-stimulating factor receptor (G-CSFR), encoded by the CSF3R gene, is involved in the production and function of neutrophilic granulocytes. Somatic mutations in CSF3R leading to truncated G-CSFR forms are observed in acute myeloid leukemia (AML), particularly those subsequent to severe chronic neutropenia (SCN), as well as in a subset of patients with other leukemias.
This investigation introduced equivalent mutations into the zebrafish csf3r gene via genome editing and used a range of molecular and cellular techniques to understand the impact of these mutations on immune cells across the lifespan.
Zebrafish harboring truncated G-CSFRs showed significantly enhanced neutrophil production throughout successive waves of embryonic hematopoiesis and a neutrophil maturation defect in adults, with the mutations acting in a partially dominant manner.
This study has elucidated new insights into the impact of G-CSFR truncations throughout the life-course and created a bone fide zebrafish model for further investigation.
Genes / Markers
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Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping