The Abnormal, Mislocalized HR BMH Protein Associates with Members of the Protein Processing Machinery in the Cytoplasm

    January 2018 in “ bioRxiv (Cold Spring Harbor Laboratory) ”
    Eric G. Folco, Maud-Virginie Brancaz-Bouvier, Agnès Belly, Stefan Nonchev, Eric G. Folco, Maud-Virginie Brancaz-Bouvier, Agnès Belly, Stefan Nonchev
    TLDR The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
    The study investigated a mutation at the mouse hairless locus, resulting in a larger mutant protein, HR bmh, due to a 296 bp deletion. This mutation led to the abnormal localization of the HR bmh protein in the cytoplasm, where it interacted with the vitamin D receptor but failed to repress VDR-mediated transactivation. The HR bmh protein was found to co-localize with HDAC6 in the cytoplasm, sharing high sequence homologies, and was implicated in endosomal processing and proteasome-related pathways. These findings were significant in understanding the specific skin phenotype observed in hairless mutant mice.
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