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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)
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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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Metal Regulatory Transcription Factor 1 (mtf1) ; Metal-responsive Element (mre) ; Wilson's Disease; Transcription; Disease; Gene; Cloning
Language
english
Publication Year
2020
Prepublished in Year
2019
HGF-reported in Year
2019
ISSN (print) / ISBN
0003-4800
e-ISSN
1469-1809
Journal
Annals of Human Genetics
Quellenangaben
Volume: 84,
Pages: 195-200
Publisher
Wiley
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status
Peer reviewed
Institute(s)
Institute of Epidemiology (EPI)
POF-Topic(s)
30202 - Environmental Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-504091-001
WOS ID
WOS:000489186500001
Scopus ID
85074039519
PubMed ID
31596515
Erfassungsdatum
2019-10-22