C20orf3 gene charachterization
Başlık çevirisi mevcut değil.
- Tez No: 583485
- Danışmanlar: Prof. Dr. LUDWIG WAGNER
- Tez Türü: Doktora
- Konular: Genetik, Nefroloji, Genetics, Nephrology
- Anahtar Kelimeler: Belirtilmemiş.
- Yıl: 2014
- Dil: İngilizce
- Üniversite: Medizinische Universität Wien
- Enstitü: Yurtdışı Enstitü
- Ana Bilim Dalı: Belirtilmemiş.
- Bilim Dalı: Belirtilmemiş.
- Sayfa Sayısı: 111
Özet
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Özet (Çeviri)
Our attempt to identify previously unknown open reading frames in the human genome involved in key biological processes in human organs such as the kidney revealed chromosome 20 open reading frame 3 (C20orf3). The product of the C20orf3 gene has been generated as a recombinant protein in E.coli and insect cells, which enabled to produce antibodies for further characterization. The abundant expression of C20orf3 mRNA and its protein product in several human tissues including kidney, liver and thyroid could be shown. Based on the hydrophobicity map of C20orf3 primary structure and FACS cell surface staining, a single transmembrane domain close to the N-terminus could be identified. Gene ontology search revealed similarity of C20orf3 with plant enzyme strictosidine synthase and the human enzyme family paraoxonases (PONs, 1 to 3). Similar to PON enzymes, a strong arylesterase activity with β-naphtyl acetate and phenyl acetate could be shown. In various thyroid tissues, a high correlation of C20orf3 with oxidative stress enzymes SOD2 and GPX1 was found. Over-expression and knock-down constructs in the anaplastic thyroid carcinoma cell line C-643 revealed a survival benefit of C20orf3 over-expressing cell lines. However, treatment with different metabolites including H2O2 and erastin did not provide any survival advantage in C20orf3 over expressing C-643 cells. In conclusion, this work demonstrates the structure and the expression pattern of C20orf3 mRNA and its product in human tissue and sheds light on the potential functional properties of C20orf3 protein with evidence for involvement in anti-oxidative processes.