Developmental study of neuroblastoma-associated gene mutations

  • Hideki Enomoto
    Affiliations
    Division of Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan

    Laboratory for Neuronal Differentiation and Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan
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  • Mayumi Nagashimada
    Affiliations
    Laboratory for Cell Metabolism and Nutrition, Brain/Liver Interface Medicine Research Center, Kanazawa University, Kanazawa, Japan
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  • Sachie Ohno
    Affiliations
    Laboratory for Neuronal Differentiation and Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan

    Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba, Japan
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      Various types of mutations of the Paired-like Homeobox 2b (PHOX2B) and the Anaplastic Lymphoma Kinase (ALK) genes have been identified in neuroblastoma patients. Elucidating how each of these mutations affect the development of the sympatho-adrenal system broadens our understanding on the pathogenetic mechanisms of neuroblastoma. In this study, we focused on frameshift mutations of the PHOX2B gene identified in syndromic autonomic neurocristopathy patients and on the missense mutation of the ALK gene (F1174L), and introduced these mutations into the corresponding gene loci of the mouse through gene targeting.
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