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Interactions of the vitamin D receptor with the co repressor hairless: analysis of hairless mutants in atrichia with papular lesions

Author(s): Wang J, Malloy PJ, Feldman D

Abstract

Atrichia with papular lesions (APL) and hereditary vitamin D-resistant rickets have a similar congenital hair loss disorder caused by mutations in hairless (HR) and vitamin D receptor (VDR) genes, respectively. HR is a VDR corepressor, and it has been hypothesized that VDR·HR suppress gene expression during specific phases of the hair cycle. In this study, we examined the corepressor activity of HR mutants (E583V, C622G, N970S, V1056M, D1012N, V1136D, and Q1176X) previously described as the molecular cause of APL as well as HR variants (P69S, C397Y, A576V, E591G, R620Q, T1022A) due to non-synonymous polymorphisms in the HR gene. We found that the corepressor activities of all but one of the pathogenic HR mutants were completely abolished. HR mutant E583V exhibited normal corepressor activity, suggesting that it may not be pathogenic. In co-immunoprecipitation assays, all of the pathogenic HR mutants bound VDR but exhibited reduced binding to histone deacetylase 1 (HDAC1), suggesting that the impaired corepressor activity is due in part to defective interactions with HDACs. The HR variants exhibited two classes of corepressor activity, those with normal activity (C397Y, E591G, R620Q) and those with partially reduced activity (P69S, A576V, T1022A). All of the variants interacted with VDR and HDAC1 with the exception of P69S, which was degraded. When coexpressed with VDR, all of the HR pathogenic mutants and variants increased the level of VDR protein, demonstrating that this function of HR was not impaired by these mutations. This study of HR mutations provides evidence for the molecular basis of APL.

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