Functional Analyses of a Novel Missense and Other Mutations of the Vitamin D Receptor in Association with Alopecia

July 2017 in “ Scientific Reports ”

Tamura Mayuko, Ishizawa, Michiyasu, Isojima Tsuyoshi, Ãzen, Samim, Oka Akira, Makishima Makoto, Kitanaka Sachiko, Özen Samim

vitamin D receptor VDR alopecia 1,25-dihydroxyvitamin D-resistant rickets HVDRR S360P mutation Q152X mutation R274L mutation H305Q mutation ligand binding affinity RXR nuclear localization signals VDR/RXR heterodimer rickets

Studysummary This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.

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