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    A germline point mutation in Runx1 uncouples its role in definitive hematopoiesis from differentiation

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    Authors
    Dowdy, Christopher R.
    Frederick, Dana
    Zaidi, Sayyed K.
    Colby, Jennifer L.
    Lian, Jane B.
    van Wijnen, Andre J.
    Gerstein, Rachel M.
    Stein, Janet L.
    Stein, Gary S.
    UMass Chan Affiliations
    Department of Microbiology and Physiological Systems
    Department of Cell and Developmental Biology
    Document Type
    Journal Article
    Publication Date
    2013-11-01
    Keywords
    Animals
    B-Lymphocytes
    Cell Differentiation
    Cell Proliferation
    Cells, Cultured
    Core Binding Factor Alpha 2 Subunit
    Embryo, Mammalian
    Flow Cytometry
    Gene Expression Regulation, Developmental
    *Germ-Line Mutation
    Hematopoiesis
    Hematopoietic Stem Cells
    Lymphopoiesis
    Mice
    Mice, Inbred C57BL
    Mice, Transgenic
    Microscopy, Fluorescence
    *Point Mutation
    Reverse Transcriptase Polymerase Chain Reaction
    T-Lymphocytes
    Cell Biology
    Cellular and Molecular Physiology
    Developmental Biology
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    Link to Full Text
    http://dx.doi.org/10.1016/j.exphem.2013.06.006
    Abstract
    Definitive hematopoiesis requires the master hematopoietic transcription factor Runx1, which is a frequent target of leukemia-related chromosomal translocations. Several of the translocation-generated fusion proteins retain the DNA binding activity of Runx1, but lose subnuclear targeting and associated transactivation potential. Complete loss of these functions in vivo resembles Runx1 ablation, which causes embryonic lethality. We developed a knock-in mouse that expresses full-length Runx1 with a mutation in the subnuclear targeting cofactor interaction domain, Runx1(HTY350-352AAA). Mutant mice survive to adulthood, and hematopoietic stem cell emergence appears to be unaltered. However, defects are observed in multiple differentiated hematopoietic lineages at stages where Runx1 is known to play key roles. Thus, a germline mutation in Runx1 reveals uncoupling of its functions during developmental hematopoiesis from subsequent differentiation across multiple hematopoietic lineages in the adult. These findings indicate that subnuclear targeting and cofactor interactions with Runx1 are important in many compartments throughout hematopoietic differentiation. Elsevier Inc. All rights reserved.
    Source
    Dowdy CR, Frederick D, Zaidi SK, Colby JL, Lian JB, van Wijnen AJ, Gerstein RM, Stein JL, Stein GS. A germline point mutation in Runx1 uncouples its role in definitive hematopoiesis from differentiation. Exp Hematol. 2013 Nov;41(11):980-991.e1. doi: 10.1016/j.exphem.2013.06.006. Link to article on publisher's site
    DOI
    10.1016/j.exphem.2013.06.006
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/30134
    PubMed ID
    23823022
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.exphem.2013.06.006
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