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Mouse models of neutropenia reveal progenitor-stage-specific defects
Open accessAbstract
Advances in genetics and sequencing have identified a plethora of disease-associated and disease-causing genetic alterations. To determine causality between genetics and disease, accurate models for molecular dissection are required; however, the rapid expansion of transcriptional populations identified through single-cell analyses presents a major challenge for accurate comparisons between mutant and wild-type cells. Here we generate mouse models of human severe congenital neutropenia (SCN) using patient-derived mutations in the GFI1 transcription factor. To determine the effects of SCN mutations, we generated single-cell references for granulopoietic genomic states with linked epitopes 1, aligned mutant cells to their wild-type equivalents and identified differentially expressed genes and epigenetic loci. We find that GFI1-target genes are altered sequentially, as cells go through successive states of differentiation. These insights facilitated the genetic rescue of granulocytic specification but not post-commitment defects in innate immune effector function, and underscore the importance of evaluating the effects of mutations and therapy within each relevant cell state.
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“The coupling of these genetic discoveries with the single-cell genomic tools we have discussed in this review greatly increases our potential to further refine our understanding of hematopoiesis, as has been done elegantly in recent studies of congenital neutropenia (Muench et al., 2020).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Muench et al., 2020
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Metadata
- Authors
- Muench, D. E., Olsson, A., Ferchen, K., Pham, G., Serafin, R. A., Chutipongtanate, S., Dwivedi, P., Song, B., Hay, S., Chetal, K., Trump-Durbin, L. R., Mookerjee-Basu, J., Zhang, K., Yu, J. C., Lutzko, C., Myers, K. C., Nazor, K. L., Greis, K. D., Kappes, D. J., Way, S. S., Salomonis, N., & Grimes, H. L.
- Affiliations
- Cincinnati Children's Hospital Medical Center (US)
- Mahidol University (TH)
- University of Cincinnati (US)
- University of California San Diego (US)
- BioLegend (United States) (US)
- Fox Chase Cancer Center (US)
- Corresponding author
- Salomonis, Nathan
- Grimes, H. Leighton
- ORCID
- Venue
- Nature
- Published
- 2020-04-22
- Volume
- 582
- Issue
- 7810
- Pages
- 109-114
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC8041154
- OpenAlex
- W3018353191
- Cited by
- 115
- References
- 35
- Citations by year
- 2026: 11 · 2025: 17 · 2024: 12 · 2023: 17 · 2022: 20 · 2021: 29 · 2020: 8
- FWCI
- 10.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (DK78392, AR‐47363)
- National Heart, Lung, and Blood Institute (R01HL122661)
- National Cancer Institute (T32CA117846)
- National Institute of Allergy and Infectious Diseases (DP1AI131080)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK090971, P30DK078392)
- National Institute of Environmental Health Sciences (T32ES007250)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (P30AR047363)
- National Center for Research Resources (S10RR027015)
- Topics
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Oncology › Neutropenia and Cancer Infections
- Keywords
- severe congenital neutropenia, GFI1, mouse model, granulopoiesis, genetic rescue
- MeSH terms
- Animals, Candida albicans, Disease Models, Animal, DNA-Binding Proteins, Female, Humans, Immunity, Innate, Male, Mice, Transgenic, Mutation, Neutropenia, Neutrophils, Transcription Factors, Cell Lineage, Granulocyte Precursor Cells, Mice
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