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Stalke, A.* ; Prister, E.* ; Baumann, U.* ; Illig, T.* ; Reischl, E. ; Sandbothe, M.* ; Vajen, B.* ; Huge, N.* ; Schlegelberger, B.* ; von Neuhoff, N.* ; Skawran, B.*

MTF1 binds to metal-responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression.

Ann. Hum. Genet. 84, 195-200 (2020)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Wilson's disease is an autosomal recessive disorder resulting from copper excess. Some patients with clinical Wilson's disease symptoms exhibit no or only heterozygous pathogenic variants in the coding region of the disease-causing ATP7B gene. Therefore, the ATP7B promoter region is of special interest. Metal-responsive elements (MREs) located in the ATP7B promoter are promising motifs in modulating the ATP7B expression. We studied protein interaction of MREe, MREc, and MREd by electrophoretic mobility shift assays and revealed specific interactions for all MREs. We further narrowed down the specific binding site. Proteins potentially binding to the three MREs were identified by MatInspector analyses. Metal regulatory transcription factor 1 (MTF1) could be validated to bind to MREe by electrophoretic mobility shift assays. ATP7B promoter-driven reporter gene expression was significantly increased because of this interaction. MTF1 is a strong candidate in regulating the ATP7B expression through MREe binding.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Metal Regulatory Transcription Factor 1 (mtf1) ; Metal-responsive Element (mre) ; Wilson's Disease; Transcription; Disease; Gene; Cloning
ISSN (print) / ISBN 0003-4800
e-ISSN 1469-1809
Zeitschrift Annals of Human Genetics
Quellenangaben Band: 84, Heft: , Seiten: 195-200 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology II (EPI2)