{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Bulleeraz V"],"pubmed_abstract":["<h4>Introduction</h4>The granulocyte colony-stimulating factor receptor (G-CSFR), encoded by the <i>CSF3R</i> gene, is involved in the production and function of neutrophilic granulocytes. Somatic mutations in <i>CSF3R</i> 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.<h4>Methods</h4>This investigation introduced equivalent mutations into the zebrafish <i>csf3r</i> gene <i>via</i> genome editing and used a range of molecular and cellular techniques to understand the impact of these mutations on immune cells across the lifespan.<h4>Results</h4>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.<h4>Discussion</h4>This study has elucidated new insights into the impact of G-CSFR truncations throughout the life-course and created a <i>bone fide</i> zebrafish model for further investigation."],"journal":["Frontiers in immunology"],"pagination":["1095453"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9871641"],"repository":["biostudies-literature"],"pubmed_title":["Leukemia-associated truncation of granulocyte colony-stimulating factor receptor impacts granulopoiesis throughout the life-course."],"pmcid":["PMC9871641"],"pubmed_authors":["Goy M","Bulleeraz V","Liongue C","Basheer F","Ward AC"],"additional_accession":[]},"is_claimable":false,"name":"Leukemia-associated truncation of granulocyte colony-stimulating factor receptor impacts granulopoiesis throughout the life-course.","description":"<h4>Introduction</h4>The granulocyte colony-stimulating factor receptor (G-CSFR), encoded by the <i>CSF3R</i> gene, is involved in the production and function of neutrophilic granulocytes. Somatic mutations in <i>CSF3R</i> 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.<h4>Methods</h4>This investigation introduced equivalent mutations into the zebrafish <i>csf3r</i> gene <i>via</i> genome editing and used a range of molecular and cellular techniques to understand the impact of these mutations on immune cells across the lifespan.<h4>Results</h4>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.<h4>Discussion</h4>This study has elucidated new insights into the impact of G-CSFR truncations throughout the life-course and created a <i>bone fide</i> zebrafish model for further investigation.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-22T06:15:40.311Z","creation":"2025-04-05T21:40:07.295Z"},"accession":"S-EPMC9871641","cross_references":{"pubmed":["36703974"],"doi":["10.3389/fimmu.2022.1095453"]}}