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    Ann Neurol. 2010 Aug;68(2):250-4.

    Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

    Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K.

    Source

    Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. hosaka@kcmc.jp

    Abstract

    Mutations in the gap junction protein gamma-2 gene, GJC2, cause a central hypomyelinating disorder; Pelizaeus-Merzbacher-like disease (PMLD; MIM311601). Using a homozygosity mapping and positional candidate gene approach, we identified a homozygous mutation (c.-167A>G) within the GJC2 promoter at a potent SOX10 binding site in a patient with mild PMLD. Functionally, this mutation completely abolished the SOX10 binding and attenuated GJC2 promoter activity. These findings suggest not only that the SOX10-to-GJC2 transcriptional dysregulation is a cause of PMLD, but also that GJC2 may be in part responsible for the central hypomyelination caused by SOX10 mutations.

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    PMID:
    20695017
    [PubMed - indexed for MEDLINE]

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