Expression of the Pkd1 gene is momentously regulated by Sp1
- Authors
- Jeon, Jeong Ok; Ryu, Kyung Hyun; Park, Jong Hoon
- Issue Date
- Oct-2007
- Publisher
- KARGER
- Keywords
- ADPKD; Pkd1; promoter; Sp1
- Citation
- NEPHRON EXPERIMENTAL NEPHROLOGY, v.107, no.2, pp e57 - e64
- Journal Title
- NEPHRON EXPERIMENTAL NEPHROLOGY
- Volume
- 107
- Number
- 2
- Start Page
- e57
- End Page
- e64
- URI
- https://scholarworks.sookmyung.ac.kr/handle/2020.sw.sookmyung/8364
- DOI
- 10.1159/000108643
- ISSN
- 1660-2129
- Abstract
- Background: Autosomal dominant polycystic kidney disease ( ADPKD) is a common human genetic disease that is caused by a mutation of a single gene inherited from either parent. Mutations in the Pkd1 gene result in the formation of multiple fluid- filled cysts in kidneys. In previous studies, the functional regulatory sequences of Pkd1 promoter region were detected by the use of comparative genome analysis. Methods: To investigate the transcriptional regulation of the Pkd1 gene, the Pkd1 promoter was isolated. This promoter contains three Sp1- binding sites. Two of the sites which are found in a 300 bp fragment ( - 127 to + 157) were mutated. An electrophoretic mobility shift assay ( EMSA) was performed to determine which transcription factors are bound to Pkd1. Results: Based on studies using a luciferase assay, the Sp1- A site ( the nearest Sp1 to the ATG start codon) is more important for activation of Pkd1. The result of EMSA showed that Sp1 transcription factor binds with Pkd1 promoter regions. Conclusions: Two of the Sp1 sites were found in a proximal promoter region of Pkd1 ( - 127 to + 157). Sp1 sites affect an important role in the activation of the gene. Especially, the Sp1- A site is more important for expression of Pkd1. Copyright (C) 2007 S. Karger AG, Basel.
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