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A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome.

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Barlow, Jillian L 
Drynan, Lesley F 
Hewett, Duncan R 
Holmes, Luke R 
Lorenzo-Abalde, Silvia 

Abstract

The identification of the genes associated with chromosomal translocation breakpoints has fundamentally changed understanding of the molecular basis of hematological malignancies. By contrast, the study of chromosomal deletions has been hampered by the large number of genes deleted and the complexity of their analysis. We report the generation of a mouse model for human 5q- syndrome using large-scale chromosomal engineering. Haploinsufficiency of the Cd74-Nid67 interval (containing Rps14, encoding the ribosomal protein S14) caused macrocytic anemia, prominent erythroid dysplasia and monolobulated megakaryocytes in the bone marrow. These effects were associated with defective bone marrow progenitor development, the appearance of bone marrow cells expressing high amounts of the tumor suppressor p53 and increased bone marrow cell apoptosis. Notably, intercrossing with p53-deficient mice completely rescued the progenitor cell defect, restoring common myeloid progenitor and megakaryocytic-erythroid progenitor, granulocyte-monocyte progenitor and hematopoietic stem cell bone marrow populations. This mouse model suggests that a p53-dependent mechanism underlies the pathophysiology of the 5q- syndrome.

Description

Keywords

Anemia, Macrocytic, Animals, Apoptosis, Chromosome Deletion, Chromosomes, Mammalian, Disease Models, Animal, Genes, p53, Hematopoietic Stem Cells, Humans, Mice, Myelodysplastic Syndromes, Synteny

Journal Title

Nat Med

Conference Name

Journal ISSN

1078-8956
1546-170X

Volume Title

16

Publisher

Springer Science and Business Media LLC

Rights

All rights reserved
Sponsorship
Medical Research Council (MR/L003368/1)