In vivo selection of wild‐type hematopoietic stem cells in a murine model of Fanconi anemia
Abstract
Fanconi anemia (FA) is an autosomal recessive disorder characterized by birth defects, increased incidence of malignancy, and progressive bone marrow failure. Bone marrow transplantation is therapeutic and, therefore, FA is a candidate disease for hematopoietic gene therapy. The frequent finding of somatic mosaicism in blood of FA patients has raised the question of whether wild-type bone marrow may have a selective growth advantage. To test this hypothesis, a cohort radio-ablated wild-type mice were transplanted with a 1:1 mixture of FA group C knockout (FACKO) and wild-type bone marrow. Analysis of peripheral blood at 1 month posttransplantation showed only a moderate advantage for wild-type cells, but upon serial transplantation, clear selection was observed. Next, a cohort of FACKO mice received a transplant of wild-type marrow cells without prior radio-ablation. No wild-type cells were detected in peripheral blood after transplantation, but a single injection of mitomycin C (MMC) resulted in an increase to greater than 25% of wild-type DNA. Serial transplantation showed that the selection occurred at the level of hematopoietic stem cells. No systemic side effects were observed. Our results show that in vivo selection for wild-type hematopoietic stem cells occurs in FA and that it is enhanced by MMC administration.
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Several disorders in which selection has been shown include Fanconi's anemia, Wilson's disease, many bile-acid transporter defects, and junctional epidermolysis bullosa.
“While this situation is an exception, there are several disorders in which selection has been shown, including Fanconi’s anemia,41 the copper storage disorder Wilson’s disease,42 many bile-acid transporter defects,43 and junctional epidermolysis bullosa44 to name a few.”
From Adeno‐associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo†‡ (2010) · cites this paper as [41]
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Self-citation
- Authors
- Battaile, K. P., Bateman, R. L., Mortimer, D., Mulcahy, J., Rathbun, R. K., Bagby, G., Fleming, W. H., & Grompe, M.
- Affiliations
- Oregon Health & Science University (US)
- From the Department of Molecular and Medical Genetics and the Division of Hematology and Medical Oncology, Oregon Health Sciences University, Portland, OR; and the Portland Veterans Affairs Medical Center, Portland, OR.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 1999-09-15
- Volume
- 94
- Issue
- 6
- Pages
- 2151-2158
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2395843561
- Cited by
- 54
- References
- 41
- Citations by year
- 2025: 1 · 2023: 1 · 2021: 2 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 1 · 2015: 1 · 2014: 1 · 2013: 3 · 2012: 3
- FWCI
- 2.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (F32HL009862, P01HL048546, 1PO1 HL 48546, 1F32HL09862)
- Topics
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Keywords
- Fanconi anemia, hematopoietic stem cells, in vivo selection, bone marrow transplantation, somatic mosaicism, mitomycin C, serial transplantation, bone marrow failure
- MeSH terms
- Animals, Bone Marrow Cells, Fanconi Anemia, Genotype, Hematopoietic Stem Cells, Bone Marrow Transplantation, Polymerase Chain Reaction, Mitomycin, Mice, Knockout, Hematopoietic Stem Cell Transplantation, Mice
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