Functional analyses of a novel missense and other mutations of the Vitamin D receptor in association with alopecia /631/80 /631/208/199 /631/208/737 /692/699 /692/163/2743/316 /13/44 /38/70 /14/35 /14/63 /38 /38/77 /38/111 /82/80 /42/109 article

Basit Öğe Kaydı
dc.contributor.authorTamura M.
dc.contributor.authorIshizawa M.
dc.contributor.authorIsojima T.
dc.contributor.authorÖzen S.
dc.contributor.authorOka A.
dc.contributor.authorMakishima M.
dc.contributor.authorKitanaka S.
dc.date.accessioned2019-10-27T08:03:22Z
dc.date.available2019-10-27T08:03:22Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractHereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a rare disorder, caused by bialellic mutations of the vitamin D receptor (VDR) gene, sometimes associated with alopecia.The aim of this study is to elucidate the mechanism of functional disruption of a novel mutation, detected in a patient with HVDRR, comparing to other mutations with or without alopecia.The patient was a 2-year-old girl with alopecia, who was clinically diagnosed as HVDRR.Genetic analysis revealed a novel homozygous mutation, S360P, located in ligand binding domain (LBD).The mutation was predicted as not disease causing by Polyphen2 and SIFT.But the transcriptional activity of S360P was disrupted as well as other reported mutations, Q152X (located in the hinge lesion), and R274L, H305Q (located in LBD).Following assays revealed no ligand binding affinity, no interaction with cofactors or RXR and no functioning of nuclear localization signals.Our results provide an additional evidence for the previous findings suggesting that DNA binding by the VDR/RXR heterodimer is essential for the function of the VDR in hair development.In conclusion, we identified a novel missense mutation of VDR causing HVDRR with alopecia.Functional analyses revealed that the single amino acid substitution could disrupt the function of the protein. © 2017 The Author(s).en_US
dc.identifier.doi10.1038/s41598-017-05081-xen_US
dc.identifier.issn2045-2322
dc.identifier.issue1en_US
dc.identifier.pmid28698609en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1038/s41598-017-05081-x
dc.identifier.urihttps://hdl.handle.net/11454/25346
dc.identifier.volume7en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofScientific Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleFunctional analyses of a novel missense and other mutations of the Vitamin D receptor in association with alopecia /631/80 /631/208/199 /631/208/737 /692/699 /692/163/2743/316 /13/44 /38/70 /14/35 /14/63 /38 /38/77 /38/111 /82/80 /42/109 articleen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

Scopus İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu